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HUMANITIES (284 journals)                  1 2     

Showing 1 - 71 of 71 Journals sorted alphabetically
Aboriginal and Islander Health Worker Journal     Full-text available via subscription   (Followers: 14)
Aboriginal Child at School     Full-text available via subscription   (Followers: 5)
About Performance     Full-text available via subscription   (Followers: 12)
Access     Full-text available via subscription   (Followers: 26)
ACCESS: Critical Perspectives on Communication, Cultural & Policy Studies     Full-text available via subscription   (Followers: 10)
Acta Academica     Full-text available via subscription   (Followers: 6)
Acta Universitaria     Open Access   (Followers: 5)
Adeptus     Open Access   (Followers: 1)
Advocate: Newsletter of the National Tertiary Education Union     Full-text available via subscription   (Followers: 1)
African and Black Diaspora: An International Journal     Hybrid Journal   (Followers: 11)
African Historical Review     Hybrid Journal   (Followers: 17)
AFRREV IJAH : An International Journal of Arts and Humanities     Open Access   (Followers: 4)
Agriculture and Human Values     Hybrid Journal   (Followers: 14)
Akademika : Journal of Southeast Asia Social Sciences and Humanities     Open Access   (Followers: 6)
Aldébaran     Open Access   (Followers: 3)
Alterstice : Revue internationale de la recherche interculturelle     Open Access  
Altre Modernità     Open Access   (Followers: 4)
Amaltea. Revista de mitocrítica     Open Access   (Followers: 1)
American Imago     Full-text available via subscription   (Followers: 3)
American Journal of Humanities and Social Sciences     Open Access   (Followers: 10)
American Review of Canadian Studies     Hybrid Journal   (Followers: 7)
Anabases     Open Access  
Analyse & Kritik. Zeitschrift f     Full-text available via subscription   (Followers: 1)
Angelaki: Journal of Theoretical Humanities     Hybrid Journal   (Followers: 18)
Anglo-Saxon England     Hybrid Journal   (Followers: 34)
Antik Tanulmányok     Full-text available via subscription  
Antipode     Hybrid Journal   (Followers: 54)
Anuario Americanista Europeo     Open Access  
Arbutus Review     Open Access   (Followers: 1)
Argumentation et analyse du discours     Open Access   (Followers: 6)
Ars & Humanitas     Open Access   (Followers: 10)
Arts and Humanities in Higher Education     Hybrid Journal   (Followers: 34)
Asia Europe Journal     Hybrid Journal   (Followers: 5)
Australasian Journal of Popular Culture, The     Hybrid Journal   (Followers: 2)
Behaviour & Information Technology     Hybrid Journal   (Followers: 52)
Behemoth     Open Access   (Followers: 3)
Bereavement Care     Hybrid Journal   (Followers: 11)
Bulletin of the School of Oriental and African Studies     Hybrid Journal   (Followers: 18)
Cahiers de praxématique     Open Access   (Followers: 1)
Carl Beck Papers in Russian and East European Studies     Full-text available via subscription   (Followers: 5)
Child Care     Full-text available via subscription   (Followers: 7)
Choreographic Practices     Hybrid Journal   (Followers: 1)
Chronicle of Philanthropy     Full-text available via subscription   (Followers: 2)
Ciencias Sociales y Humanidades     Open Access   (Followers: 1)
Claroscuro     Open Access   (Followers: 1)
Co-herencia     Open Access  
Coaching: An International Journal of Theory, Research and Practice     Hybrid Journal   (Followers: 10)
Cogent Arts & Humanities     Open Access   (Followers: 3)
Colloquia Humanistica     Open Access  
Communication and Critical/Cultural Studies     Hybrid Journal   (Followers: 27)
Comprehensive Therapy     Hybrid Journal   (Followers: 3)
Congenital Anomalies     Hybrid Journal   (Followers: 1)
Conjunctions. Transdisciplinary Journal of Cultural Participation     Open Access   (Followers: 3)
Conservation Science in Cultural Heritage     Open Access   (Followers: 10)
Cornish Studies     Hybrid Journal   (Followers: 2)
Creative Industries Journal     Hybrid Journal   (Followers: 9)
Critical Arts : South-North Cultural and Media Studies     Hybrid Journal   (Followers: 12)
Crossing the Border : International Journal of Interdisciplinary Studies     Open Access   (Followers: 4)
Cuadernos de historia de España     Open Access   (Followers: 4)
Cultural History     Hybrid Journal   (Followers: 25)
Cultural Studies     Hybrid Journal   (Followers: 51)
Culturas     Open Access   (Followers: 1)
Culture, Theory and Critique     Hybrid Journal   (Followers: 27)
Daedalus     Hybrid Journal   (Followers: 21)
Dandelion : Postgraduate Arts Journal & Research Network     Open Access   (Followers: 3)
Death Studies     Hybrid Journal   (Followers: 19)
Debatte: Journal of Contemporary Central and Eastern Europe     Hybrid Journal   (Followers: 5)
Digital Humanities Quarterly     Open Access   (Followers: 58)
Diogenes     Hybrid Journal   (Followers: 8)
Doct-Us Journal     Open Access  
Dorsal Revista de Estudios Foucaultianos     Open Access  
e-Hum : Revista das Áreas de Humanidade do Centro Universitário de Belo Horizonte     Open Access   (Followers: 1)
Early Modern Culture Online     Open Access   (Followers: 40)
Égypte - Monde arabe     Open Access   (Followers: 4)
Eighteenth-Century Fiction     Full-text available via subscription   (Followers: 20)
Éire-Ireland     Full-text available via subscription   (Followers: 9)
En-Claves del pensamiento     Open Access   (Followers: 1)
Ethiopian Journal of the Social Sciences and Humanities     Full-text available via subscription   (Followers: 8)
Études arméniennes contemporaines     Open Access   (Followers: 1)
Études canadiennes / Canadian Studies     Open Access   (Followers: 1)
Études de lettres     Open Access   (Followers: 3)
European Journal of Cultural Studies     Hybrid Journal   (Followers: 27)
European Journal of Social Theory     Hybrid Journal   (Followers: 17)
Expositions     Full-text available via subscription  
Fronteras : Revista de Ciencias Sociales y Humanidades     Open Access   (Followers: 2)
Frontiers in Digital Humanities     Open Access   (Followers: 1)
Fudan Journal of the Humanities and Social Sciences     Hybrid Journal  
GAIA - Ecological Perspectives for Science and Society     Full-text available via subscription   (Followers: 4)
German Research     Hybrid Journal   (Followers: 1)
German Studies Review     Full-text available via subscription   (Followers: 27)
Germanic Review, The     Hybrid Journal   (Followers: 5)
Globalizations     Hybrid Journal   (Followers: 8)
Gothic Studies     Full-text available via subscription   (Followers: 17)
Gruppendynamik und Organisationsberatung     Hybrid Journal   (Followers: 1)
Habitat International     Hybrid Journal   (Followers: 5)
Hacettepe Üniversitesi Edebiyat Fakültesi Dergisi     Open Access   (Followers: 1)
Harvard Journal of Asiatic Studies     Full-text available via subscription   (Followers: 15)
Heritage & Society     Hybrid Journal   (Followers: 19)
History of Humanities     Full-text available via subscription   (Followers: 5)
Hopscotch: A Cultural Review     Full-text available via subscription   (Followers: 1)
Human Affairs     Open Access   (Followers: 1)
Human and Ecological Risk Assessment: An International Journal     Hybrid Journal   (Followers: 4)
Human Nature     Hybrid Journal   (Followers: 20)
Human Performance     Hybrid Journal   (Followers: 5)
Human Remains and Violence : An Interdisciplinary Journal     Full-text available via subscription  
Human Studies     Hybrid Journal   (Followers: 11)
humanidades     Open Access  
Humanitaire     Open Access   (Followers: 2)
Humanities     Open Access   (Followers: 11)
Hungarian Cultural Studies     Open Access  
Hungarian Studies     Full-text available via subscription  
Ibadan Journal of Humanistic Studies     Full-text available via subscription  
Inkanyiso : Journal of Humanities and Social Sciences     Open Access   (Followers: 1)
Inter Faculty     Open Access  
Interim : Interdisciplinary Journal     Open Access   (Followers: 3)
International Journal for History, Culture and Modernity     Open Access   (Followers: 7)
International Journal of Arab Culture, Management and Sustainable Development     Hybrid Journal   (Followers: 8)
International Journal of Cultural Studies     Hybrid Journal   (Followers: 26)
International Journal of Heritage Studies     Hybrid Journal   (Followers: 18)
International Journal of Humanities and Arts Computing     Hybrid Journal   (Followers: 13)
International Journal of Humanities and Cultural Studies     Open Access   (Followers: 6)
International Journal of Humanities of the Islamic Republic of Iran     Open Access   (Followers: 11)
International Journal of Listening     Hybrid Journal   (Followers: 4)
International Journal of the Classical Tradition     Hybrid Journal   (Followers: 12)
Interventions : International Journal of Postcolonial Studies     Hybrid Journal   (Followers: 16)
ÍSTMICA. Revista de la Facultad de Filosofía y Letras     Open Access   (Followers: 1)
Jangwa Pana     Open Access  
Jewish Culture and History     Hybrid Journal   (Followers: 20)
Journal de la Société des Américanistes     Open Access  
Journal des africanistes     Open Access   (Followers: 1)
Journal for Cultural Research     Hybrid Journal   (Followers: 12)
Journal for General Philosophy of Science     Hybrid Journal   (Followers: 7)
Journal for Learning Through the Arts     Open Access   (Followers: 7)
Journal for New Generation Sciences     Open Access   (Followers: 2)
Journal for Research into Freemasonry and Fraternalism     Hybrid Journal  
Journal for Semitics     Full-text available via subscription   (Followers: 6)
Journal Of Advances In Humanities     Open Access   (Followers: 3)
Journal of Aesthetics & Culture     Open Access   (Followers: 22)
Journal of African American Studies     Hybrid Journal   (Followers: 8)
Journal of African Cultural Studies     Hybrid Journal   (Followers: 5)
Journal of African Elections     Full-text available via subscription  
Journal of Arts & Communities     Hybrid Journal   (Followers: 6)
Journal of Arts and Humanities     Open Access   (Followers: 20)
Journal of Bioethical Inquiry     Hybrid Journal   (Followers: 3)
Journal of Cultural Economy     Hybrid Journal   (Followers: 9)
Journal of Cultural Geography     Hybrid Journal   (Followers: 22)
Journal of Data Mining and Digital Humanities     Open Access   (Followers: 30)
Journal of Developing Societies     Hybrid Journal   (Followers: 2)
Journal of Family Theory & Review     Hybrid Journal   (Followers: 3)
Journal of Franco-Irish Studies     Open Access   (Followers: 1)
Journal of Happiness Studies     Hybrid Journal   (Followers: 28)
Journal of Interactive Humanities     Open Access   (Followers: 3)
Journal of Intercultural Communication Research     Hybrid Journal   (Followers: 16)
Journal of Intercultural Studies     Hybrid Journal   (Followers: 12)
Journal of Interdisciplinary History     Hybrid Journal   (Followers: 26)
Journal of Labor Research     Hybrid Journal   (Followers: 20)
Journal of Medical Humanities     Hybrid Journal   (Followers: 22)
Journal of Medieval and Early Modern Studies     Full-text available via subscription   (Followers: 34)
Journal of Modern Greek Studies     Full-text available via subscription   (Followers: 4)
Journal of Modern Jewish Studies     Hybrid Journal   (Followers: 14)
Journal of Open Humanities Data     Open Access   (Followers: 1)
Journal of Semantics     Hybrid Journal   (Followers: 13)
Journal of the Musical Arts in Africa     Hybrid Journal   (Followers: 1)
Journal of Visual Culture     Hybrid Journal   (Followers: 35)
Journal Sampurasun : Interdisciplinary Studies for Cultural Heritage     Open Access  
Jurisprudence     Hybrid Journal   (Followers: 20)
Jurnal Sosial Humaniora     Open Access   (Followers: 2)
L'Orientation scolaire et professionnelle     Open Access   (Followers: 1)
La lettre du Collège de France     Open Access   (Followers: 1)
La Revue pour l’histoire du CNRS     Open Access   (Followers: 2)
Lagos Notes and Records     Full-text available via subscription  
Language and Intercultural Communication     Hybrid Journal   (Followers: 21)
Language Resources and Evaluation     Hybrid Journal   (Followers: 7)
Law and Humanities     Hybrid Journal   (Followers: 8)
Law, Culture and the Humanities     Hybrid Journal   (Followers: 12)
Le Portique     Open Access   (Followers: 1)
Leadership     Hybrid Journal   (Followers: 35)
Legal Ethics     Hybrid Journal   (Followers: 13)
Legon Journal of the Humanities     Full-text available via subscription  
Letras : Órgano de la Facultad de Letras y Ciencias Huamans     Open Access   (Followers: 1)
Literary and Linguistic Computing     Hybrid Journal   (Followers: 5)
Litnet Akademies : 'n Joernaal vir die Geesteswetenskappe, Natuurwetenskappe, Regte en Godsdienswetenskappe     Open Access  
Lwati : A Journal of Contemporary Research     Full-text available via subscription   (Followers: 1)
Measurement     Hybrid Journal   (Followers: 2)
Medical Humanities     Full-text available via subscription   (Followers: 22)
Medieval Encounters     Hybrid Journal   (Followers: 9)
Médiévales     Open Access   (Followers: 5)
Mélanges de la Casa de Velázquez     Partially Free   (Followers: 1)
Memory Studies     Hybrid Journal   (Followers: 36)
Mens : revue d'histoire intellectuelle et culturelle     Full-text available via subscription  
Messages, Sages and Ages     Open Access  
Mind and Matter     Full-text available via subscription   (Followers: 3)
Mneme - Revista de Humanidades     Open Access   (Followers: 1)
Modern Italy     Hybrid Journal   (Followers: 8)
Motivation Science     Full-text available via subscription   (Followers: 2)
Mouseion     Open Access   (Followers: 2)
Mouseion: Journal of the Classical Association of Canada     Full-text available via subscription   (Followers: 14)
Museum International Edition Francaise     Hybrid Journal   (Followers: 4)
National Academy Science Letters     Hybrid Journal   (Followers: 5)
Nationalities Papers     Hybrid Journal   (Followers: 7)

        1 2     

Journal Cover Congenital Anomalies
  [SJR: 0.352]   [H-I: 23]   [1 followers]  Follow
   Hybrid Journal Hybrid journal (It can contain Open Access articles)
   ISSN (Print) 0914-3505 - ISSN (Online) 1741-4520
   Published by John Wiley and Sons Homepage  [1597 journals]
  • Familial campomelic dysplasia due to maternal germinal mosaicism
    • Authors: Daisuke Higeta; Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
      Abstract: Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained. This is the first report of molecularly confirmed maternal germinal mosaicism for a SOX9 mutation. We suggest that a meticulous clinical examination of the parents, even if they are superficially healthy, is needed to avoid overlooking germinal mosaicism of SOX9 mutations.
      PubDate: 2018-03-14T23:50:23.837324-05:
      DOI: 10.1111/cga.12279
  • Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related
    • Authors: Sumire Terasawa; Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
      Abstract: Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus. This system will be helpful in the differential diagnosis of TD and ACH in early gestation and in couples concerned about the recurrence of TD due to germinal mosaicism.
      PubDate: 2018-03-14T23:40:24.311102-05:
      DOI: 10.1111/cga.12278
  • Evaluation of a patient with classical Ehlers-Danlos syndrome due to a
           9q34 duplication affecting COL5A1
    • Authors: Yukiko Kuroda; Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-ichi Nagai, Kenji Kurosawa
      Abstract: Ehlers-Danlos syndrome classical type (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with cEDS. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1. Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2-11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons 12-67 of COL5A1.
      PubDate: 2018-03-09T00:05:58.206846-05:
      DOI: 10.1111/cga.12277
  • Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with
           or without cleft palate in newborns at a university hospital from West
    • Authors: Jorge Román Corona-Rivera; Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Sandra Olvera-Molina, Miriam A. Orozco-Martín, Diana García-Cruz, Izabel M. Ríos-Flores, Brian Gabriel Gómez-Rodríguez, Gemma Rivas-Soto, J. Jesús Pérez-Molina
      Abstract: We determined the overall prevalence of typical orofacial clefts (OFCs) and the potential risks for nonsyndromic cleft lip with or without palate (NSCL±P) in a University Hospital from west México. For the prevalence, 227 live born infants with typical OFCs were included from a total of 81,193 births occurred during the period 2009 to 2016 at the ‘Dr. Juan I. Menchaca’ Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with NSCL±P (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio (aORs) with 95% confidence intervals (95% CI). The overall prevalence for typical OFCs was 28 per 10,000 (95% CI 24.3-31.6), or 1 per 358 live births. The mean values for the pre-pregnancy weight, ante-partum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with NSCL±P had a significantly higher risk for previous history of any type of congenital anomaly (aOR 2.7; 95% CI 1.4-5.1), history of a relative with CL±P (aOR 19.6; 95% CI 8.2-47.1), and first-trimester exposures to progestogens (aOR 6.8; 95% CI 1.8-25.3), hyperthermia (aOR 3.4; 95% CI 1.1-10.6), and common cold (aOR 3.6; 95% CI 1.1-11.9). These risks could have contributed to explain the high prevalence of OFCs in our region of Mexico, emphasizing that excepting for history of relatives with CL±P, most are susceptible of modification.
      PubDate: 2018-02-19T06:16:00.170128-05:
      DOI: 10.1111/cga.12276
  • Report of four novel variants in ASNS causing asparagine synthetase
           deficiency and review of literature
    • Authors: Chelna Galada; Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla
      Abstract: Asparagine synthetase deficiency (ASNSD, MIM 615574) is a recently delineated rare neurometabolic disorder caused by mutations in ASNS (MIM 108370) (Ruzzo et al., 2013). It is characterized by congenital and/or postnatal progressive microcephaly, global developmental delay, seizures, growth retardation, cerebral atrophy and simplified gyral pattern.
      PubDate: 2018-02-06T07:45:21.948391-05:
      DOI: 10.1111/cga.12275
  • A novel SYNGAP1 variant in a patient with intellectual disability and
           distinctive dysmorphisms
    • Authors: Yuichi Kimura; Moe Akahira-Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
      Abstract: We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability (ID), autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of ID in this patient.
      PubDate: 2018-01-30T10:20:01.025631-05:
      DOI: 10.1111/cga.12273
  • Categorization of fetal external findings in developmental toxicology
           studies by the Terminology Committee of the Japanese Teratology Society
    • Authors: Yuko Izumi; Yojiro Ooshima, Kazuhiro Chihara, Michio Fujiwara, Yoshihiro Katsumata, Kohei Shiota
      Abstract: Categorization of fetal external findings in common laboratory animals, intended to make the agreement at Berlin Workshop in 2014 more practical, was proposed by the Terminology Committee of the Japanese Teratology Society (JTS) at the Workshop in the 55th JTS Annual Meeting in 2015. In the Workshop, 73 external findings, which had been categorized as "Gray zone" anomalies but not as "Malformation" or "Variation" in the 2014 Berlin Workshop, were discussed and classified as "Malformation", "Non-structural abnormality", "Variation", and "Not applicable." The proposal was based on the results of a survey conducted in 2014, where 20 facilities (including pharmaceutical, chemical, and pesticide companies and contract laboratories) and 2 selected expert teratologists in Japan were asked for their opinions on the categorization of these findings. Based on the discussion, JTS members have agreed that 42 out of the 73 findings can be classified as malformations (38), non-structural abnormalities (3), malformations/non-structural abnormalities (1), and variations (0), while the remaining 31 findings were recommended to be categorized as “Not applicable” for fetuses. The details of the classification are shown on the website of the JTS (
      PubDate: 2018-01-30T10:00:13.301822-05:
      DOI: 10.1111/cga.12272
  • Association of single nucleotide polymorphisms in WNT genes with the risk
           of Non-Syndromic Cleft Lip with or without Cleft Palate
    • Authors: Houshang Rafighdoost; Mohammad Hashemi, Hossein Asadi, Gholamreza Bahari
      Abstract: Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors have been indicated to be related with susceptibility to NSCL/P. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of NSCL/P. In the present study we aimed to inspect the relationship between WNT3 (rs3809857, rs9890413), WNT3A (rs752107, rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and NSCL/P in an Iranian population. The present case-control study was carried out on 120 unrelated NSCL/P patients and 112 healthy subjects. The variants were genotyped by PCR-RFLP method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of NSCL/P in codominant (OR=0.16, 95%CI=0.03-0.75, p=0.020, TT vs GG), recessive (OR=0.16, 95%CI=0.03-0.72, p=0.009, TT vs GG+GT) inheritance models. The rs9890413 variant marginally decreased the risk of NSCL/P in codominant (OR=0.41, 95%CI=0.17-0.99, p=0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of NSCL/P in codominant (OR=0.24, 95%CI=0.10-0.58, p=0.002, CT vs CC) and allele (OR=0.26, 95%CI=0.11-0.62, p=0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants and risk/protection of NSCL/P. Stratified analysis showed that WNT10a rs201002930 (c.392 C>T) significantly decreased the risk of cleft lip with cleft palate (CLP) and cleft palate only (CP). In summary, the results suggest an association between WNT genes polymorphisms and the risk NSCL/P in a sample of the southeast Iranian population.
      PubDate: 2018-01-22T09:35:23.442577-05:
      DOI: 10.1111/cga.12271
  • A pure 21q22.3 deletion identified in a patient with mild phenotypic
    • Authors: Ilária Cristina Sgardioli; Matheus de Melo Copelli, Elaine Lustosa-Mendes, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
      Abstract: Partial deletions at the chromosome 21 have been rarely reported and in the majority of descriptions are associated with ring chromosome 21, resulting in terminal deletions of 21q22.3 and a large phenotypic variability (Roberson et al.,2011).
      PubDate: 2018-01-11T03:00:44.730346-05:
      DOI: 10.1111/cga.12270
  • Predicting the intrauterine fetal death of fetuses with cystic hygroma in
           early pregnancy
    • Authors: Mai Shimura; Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami
      Abstract: We investigated whether it was possible to predict the prognosis of fetuses with cystic hygroma (CH) in early pregnancy based on the degree of neck thickening. We retrospectively analyzed 57 singleton pregnancies with fetuses with CH who were examined before the 22nd week of pregnancy. The fetuses were categorized according to the outcome, structural abnormalities at birth, and chromosomal abnormalities. Here, we proposed a new sonographic predictor with which we assessed neck thickening by dividing the width of the neck thickening by the biparietal diameter (BPD), which is expressed as the CH/BPD ratio (CBR). The median CBR in the intrauterine fetal death (IUFD) group (0.51) was significantly higher than that in the live birth group (0.27). No significant difference in the median CBR was found between the structural abnormalities group at birth and the no structural abnormalities group. And no significant difference in the median CBR was found between the chromosomal abnormality group and the no chromosomal abnormality group. We used receiver operating characteristic analysis to evaluate the CBR to predict IUFD. When the CBR cut-off value was 0.5, IUFD could be predicted with a sensitivity of 52.9% and a specificity of 100%. It is possible to predict IUFD in fetuses with CH in early pregnancy if CBR is measured. However, even if CBR is measured, predicting the presence or absence of a structural abnormality at birth or a chromosomal abnormality is difficult.
      PubDate: 2018-01-11T02:50:25.684365-05:
      DOI: 10.1111/cga.12269
  • Transcription factor Foxc1 is involved in anterior part of cranial base
    • Authors: Nandar Mya; Toshiko Furutera, Shigeru Okuhara, Tsutomu Kume, Masaki Takechi, Sachiko Iseki
      Abstract: The cranial base is a structure mainly formed through endochondral ossification, and integrated into the craniofacial complex acting as an underlying platform for developing brain. Foxc1 is an indispensable regulator during intramembranous and endochondral ossification. In this study, we found that the spontaneous loss of Foxc1 function mouse (congenital hydrocephalous), Foxc1ch/ch, showed the anterior cranial base defects including unossified presphenoid and lack of middle part of the basisphenoid bone. Consistently, hypoplastic presphenoid primordial cartilage (basal portion of the trabecular cartilage) and lack of the middle part of basisphenoid primordial cartilage (the hypophyseal cartilage) were observed at earlier developmental stage. Foxc1 was expressed robustly and ubiquitously in undifferentiated mesenchyme of cranial base forming area in E11.0 wild type fetuses. Once chondrogenesis commenced, the expression was down-regulated and later limited to perichondrium. Detection of transcripts of Collagen type2 A1 (Col2a1) revealed that both basal portion of the trabecular cartilage and anterior part of the hypophyseal cartilage developing anterior to persistent epithelial stalk of the anterior lobe of the pituitary gland was suppressed in the Foxc1ch/ch. Proliferation activity of chondrocyte precursor cells was higher in the Foxc1ch/ch. Loss of Foxc1 function only in the neural crest cell-lineage (Wnt1-cre;Foxc1 ch/flox) showed ossification of the posterior part of the hypophyseal cartilage derived from mesoderm. These findings suggest that Foxc1 is an important regulator to progress chondrogenesis and initiation of ossification for the presphenoid and basisphenoid bones.
      PubDate: 2018-01-11T02:40:40.688267-05:
      DOI: 10.1111/cga.12268
  • A novel missense mutation of L1CAM in a fetus with isolated hydrocephalus
    • Authors: Honglei Duan; Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li
      Abstract: Fetal hydrocephalus is a descriptive diagnosis of symptoms, which can result from numerous causes, including developmental anomalies, chromosomal disorders, genetic syndromes and intrauterine infection (Tully et al. 2014). Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS, OMIM# 307000), also named as X-linked hydrocephalus, was first described in the 1940s.
      PubDate: 2018-01-02T06:35:38.632285-05:
      DOI: 10.1111/cga.12267
  • Issue Information
    • Pages: 45 - 47
      Abstract: The three-dimensionally reconstructed models show the differentiation and expansion of developing human brain from the embryonic (top) to fetal (bottom) stage. At the end of the embryonic period, developing brain is segmented into six areas: the telencephalon, mesencephalon, diencephalon, cerebellum, pons and medulla oblongata. In the fetal period, each region, especially telencephalon, is expanded rapidly. Further details can be seen in the article by Yamaguchi et al. in this issue.The three-dimensionally reconstructed models show the differentiation and expansion of developing human brain from the embryonic (top) to fetal (bottom) stage. At the end of the embryonic period, developing brain is segmented into six areas: the telencephalon, mesencephalon, diencephalon, cerebellum, pons and medulla oblongata. In the fetal period, each region, especially telencephalon, is expanded rapidly. Further details can be seen in the article by Yamaguchi et al. in this issue.
      PubDate: 2018-03-05T03:22:56.338339-05:
      DOI: 10.1111/cga.12246
  • Announcement
    • Pages: 78 - 78
      PubDate: 2018-03-05T03:22:55.795961-05:
      DOI: 10.1111/cga.12274
  • Repairability of skeletal alterations induced by sodium valproate in rats
    • Authors: Yuka Kirihata; Yoshiki Ban, Chiaki Nakamori, Hironori Takagi, Tomonori Hashimoto, Shunsuke Tsutsumi
      Abstract: The present study aimed at examining postnatal repairability of sodium valproate (VPA)-induced skeletal alterations in rats. VPA (400 mg/kg) or the vehicle (distilled water) was orally administrated to pregnant Sprague-Dawley rats from gestation day (GD) 9 to 11. Fetuses and pups were obtained on GD 21 and postnatal day (PND) 11, respectively, and their skeletons were stained with Alizarin red S and Alcian blue and examined. VPA-induced costal and vertebral alterations in the fetuses included discontinued rib cartilage, fused rib, full or short supernumerary rib, bipart ossification of thoracic centrum, supernumerary lumbar vertebrae, and lumbarization. In pups, however, discontinued rib cartilage was not observed, and the incidence of a short supernumerary rib was significantly lower than that in the fetuses, suggesting that these alterations are postnatally repairable.
      PubDate: 2017-12-21T08:40:21.549804-05:
      DOI: 10.1111/cga.12266
  • Comment on: A prospective study on fetal posterior cranial fossa
           assessment for early detection of open spina bifida at 11–13 weeks by
           Kose et al.
    • Authors: Robert Lachmann
      Abstract: congratulations to your excellent article: A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11–13 weeks.Your work is asking the most important questions clarifying this issue.
      PubDate: 2017-12-21T08:25:25.171264-05:
      DOI: 10.1111/cga.12265
  • Novel Sequence Variants in the MKKS Gene Cause Bardet-Biedl Syndrome with
           Intra- and Inter-Familial Variable Phenotypes
    • Authors: Asmat Ullah; Maryam Khalid, Muhammad Umair, Sher Alam Khan, Muhammad Bilal, Saadullah Khan, Wasim Ahmad
      Abstract: Bardet-Biedl Syndrome (BBS) is a multisystem disorder involving retina, kidney, limbs and nervous system. Additional features associated with BBS include dental anomalies, cardiovascular defects, hearing loss and speech impairment (Beales et al. 199; Ullah and Umair et al. 2017). Diagnosis of BBS is based on the presence of four out of six primary or three primary and two secondary phenotypes.
      PubDate: 2017-12-12T09:32:21.343524-05:
      DOI: 10.1111/cga.12264
  • International volunteer surgical project for cleft lip/cleft palate in
    • Authors: Beuy Joob; Viroj Wiwanitkit
      Abstract: we read the publication on “Outcomes of an international volunteer surgical project for patients with cleft lip and/or cleft palate: A mission in developing Laos ”with a great interest (Got et al. 2007). Goto et al. (2007) concluded that “This was likely an effect of continuing to train local medical staff in surgical techniques and donating surgical tools and facilities over a period of 16 years while building a good relationship with local staff. However, the healthcare system in Laos is an obstacle to some patients who still cannot undergo CL/P surgery in infancy for financial reasons.” Indeed, the limitation of infrastructure and lack of experienced medical personnel are common in poor developing countries.
      PubDate: 2017-12-12T09:16:17.446454-05:
      DOI: 10.1111/cga.12263
  • X-linked VACTERL-H Caused by Deletion of Exon 3 in FANCB: A Case Report
    • Authors: Norikazu Watanabe; Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
      Abstract: VACTERL is a congenital malformation characterized by vertebral defects (V), anal atresia (A), cardiac malformation (C), tracheoesophageal fistula (T), esophageal atresia (E), radial or renal dysplasia (R), and limb abnormalities (L) (McCauley et al. 2011). An association of VACTERL with ventriculomegaly or clinical hydrocephalus, known as VACTERL-H, was reported to have poor prognosis. Here, we report a case of VACTERL-H with an X-linked family history and a deleted exon 3 in FANCB.
      PubDate: 2017-12-12T09:06:56.869985-05:
      DOI: 10.1111/cga.12262
  • The Blechschmidt Collection: revisiting specimens from a historical
           collection of serially sectioned human embryos and fetuses using modern
           imaging techniques
    • Authors: Reina Miyazaki; Haruyuki Makishima, Jörg Männer, Hans-Georg Sydow, Chigako Uwabe, Tetsuya Takakuwa, Christoph Viebahn, Shigehito Yamada
      Abstract: Along with the Carnegie Collection in the United States and the Kyoto Collection in Japan, the Blechschmidt Collection (Georg-August-University of Göttingen, Germany) is a major historical human embryo and fetus collection. These collections are of enormous value to human embryology; however, due to the nature of the historical histological specimens, some stains are fading in color, and some glass slides are deteriorating over time. To protect these specimens against such degradation and ensure their future usefulness, we tried to apply modern image scanning and computational reconstruction. Samples of histological specimens of the Blechschmidt Collection were digitized into images using commercial flatbed scanners with a resolution of 4800 pixels per inch. Two specimens were reconstructed into three-dimensional (3D) images by using modern techniques to vertically stack two-dimensional images of the slices into 3D blocks. The larger specimen of crown-rump length (CRL) 64.0 mm, a series of very large histological sections in human embryology, was reconstructed clearly, with its central nervous system segmented before stacking. The smaller specimen of CRL 17.5 mm was also reconstructed into 3D images. The outer surface of the embryo was intact, and its development was classified according to the widely used Carnegie stages (CSs). The CS of the specimen was identified as the later half of CS 20. The invaluable Blechschmidt Collection can be revisited for further research with modern techniques such as digital image scanning and computational 3D reconstruction.
      PubDate: 2017-11-03T05:50:58.768873-05:
      DOI: 10.1111/cga.12261
  • Association of MEOX2 Polymorphism with Nonsyndromic Cleft Palate Only in a
           Vietnamese population
    • Authors: Duy Le Tran; Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Maya Ono, Chisato Sakuma, Shinichi Nakahara, Tham Thi Hong Nguyen, Phuong Thi Pham, Viet Hoang, Van Thi Tuyet Tran, Minh Duc Nguyen, Nagato Natsume
      Abstract: To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case–control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOneTM Realtime PCR system with TaqMan® SNP Genotyping Assays (Thermo Fisher). Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026 – 2.064) and p value 
      PubDate: 2017-10-14T05:10:21.296743-05:
      DOI: 10.1111/cga.12259
  • A novel AMER1 frameshift mutation in a girl with osteopathia striata with
           cranial sclerosis
    • Authors: Yumi Enomoto; Yoshinori Tsurusaki, Noriaki Harada, Noriko Aida, Kenji Kurosawa
      Abstract: Osteopathia striata with cranial sclerosis (OSCS) (MIM #300373) is a rare X-linked dominant bone dysplasia characterized by cranial sclerosis and linear striations in the long bones of females, and fetal or neonatal lethality in affected males.
      PubDate: 2017-10-09T04:25:20.338768-05:
      DOI: 10.1111/cga.12258
  • Extracranial outflow of particles solved in cerebrospinal fluid:
           Fluorescein injection study
    • Authors: Takuya Akai; Toshihisa Hatta, Hiroki Shimada, Keiji Mizuki, Nae Kudo, Taizo Hatta, Hiroki Otani
      Abstract: Cerebrospinal fluid is thought to be mainly absorbed into arachnoid granules in the subarachnoid space and drained into the sagittal sinus. However, some observations such as late outbreak of arachnoid granules in fetus brain and recent cerebrospinal fluid movements study by magnetic resonance images, conflict with this hypothesis. In this study, we investigated the movement of cerebrospinal fluid in fetuses. Several kinds of fluorescent probes with different molecular weights were injected into the lateral ventricle or subarachnoid space in mouse fetuses at a gestational age of 13 days. The movements of the probes were monitored by live imaging under fluorescent microscope. Following intraventricular injection, the probes dispersed into the 3rd ventricle and aqueduct immediately, but did not move into the 4th ventricle and spinal canal. After injection of low and high molecular weight conjugated probes, both probes dispersed into the brain but only the low molecular weight probe dispersed into the whole body. Following intra-subarachnoid injection, both probes diffused into the spinal canal gradually. Neither probe dispersed into the brain and body. The probe injected into the lateral ventricle moved into the spinal central canal by the fetus head compression, and returned into the aqueduct by its release. We conclude this study as follows; 1) The movement of metabolites in cerebrospinal fluid in the ventricles will be restricted by molecular weight. 2) Cerebrospinal fluid in the ventricle and in the subarachnoid space move differently. 3) Cerebrospinal fluid may not appear to circulate. In the event of high intracranial pressure, the fluid may move into the spinal canal.
      PubDate: 2017-10-04T05:26:01.066966-05:
      DOI: 10.1111/cga.12257
  • Outcomes of an International Volunteer Surgical Project for Patients with
           Cleft Lip and/or Cleft Palate: A Mission in Developing Laos
    • Authors: Takahiro Goto; Kazuhide Nishihara, Keiichi Kataoka, Shinpei Goto, Tessho Maruyama, Hajime Sunakawa, Nagato Natsume, Akira Arasaki
      Abstract: Cleft lip and/or palate (CL/P) is a common birth defect of complex etiology. CL/P surgery is generally performed in infancy to allow for improvements in esthetics, suckling, and speech disorders as quickly as possible. We have engaged in activities such as free-of-charge surgery for CL/P a total of 12 times from 2001 to 2016 in Lao People's Democratic Republic (Laos). The United Nations has designated Laos as a Least Developed Country; it is one of the poorest countries in Asia. We have carried out our activities for a long time, primarily in CL/P patients who cannot undergo surgery for financial reasons, and we have performed CL/P-related surgeries for 283 patients up to 2016. When we began our activities in 2001, the mean age at first cheiloplasty was 11.6 years, which dropped over time until 2016 when the mean age was 1.8 years. A linear regression analysis showed a significant difference between the age at first lip plasty and the year of first operation (β = −0.35; P < 0.001). This was likely an effect of continuing to train local medical staff in surgical techniques and donating surgical tools and facilities over a period of 16 years while building a good relationship with local staff. However, the healthcare system in Laos is an obstacle to some patients who still cannot undergo CL/P surgery in infancy for financial reasons. We therefore need to support Laos to provide treatment on their own as we continue to carry out our activities for CL/P patients.
      PubDate: 2017-09-26T08:25:21.250575-05:
      DOI: 10.1111/cga.12255
  • A novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley
    • Authors: Toshiyuki Yamamoto; Yongping Lu, Ryoko Nakamura, Keiko Shimojima, Ryutaro Kira
      Abstract: Allan-Herndon-Dudley syndrome (AHDS) is a neurodevelopmental disorder related to thyroid transporter (monocarboxylate transporter 8: MCT8) deficiency (MIM #300523) (Allan et al. 1944). Mutations in the solute carrier family 16 member 2 (SLC16A2) gene, which encodes MCT8, are responsible for AHDS (Dumitrescu et al. 2004). Approximately, 100 different mutations have been identified. Here, we identified a novel SLC16A2 mutation in a patient with AHDS (Shimojima et al. 2016; Yamamoto et al. 2014).
      PubDate: 2017-09-01T06:30:46.937406-05:
      DOI: 10.1111/cga.12251
  • Retroperitoneal gastric duplication mimicking a prenatal adrenal cyst
    • Authors: Aurora Lucía Castillo-Fernández; Fernando Vázquez-Rueda, Mª Dolores Cañete, Javier Caballero-Villarraso
      Abstract: Duplications of the gastric tract are made up of a wide variety of masses throughout the gastrointestinal tract. They may have tubular or cystic morphology. Some duplications are associated with malformations, especially those located in the thorax, which can be associated with intestinal atresia, and malformations of the urinary tract or vetebras (Lund. 2012).
      PubDate: 2017-08-16T07:10:50.92719-05:0
      DOI: 10.1111/cga.12244
  • Re-evaluation of lung to thorax transverse area ratio immediately before
           birth in predicting postnatal short-term outcomes of fetuses with isolated
           left-sided congenital diaphragmatic hernia: a single center analysis
    • Authors: Saki Kido; Nobuhiro Hidaka, Yuka Sato, Yasuyuki Fujita, Kina Miyoshi, Kouji Nagata, Tomoaki Taguchi, Kiyoko Kato
      Abstract: We aimed to investigate whether the lung-to-thorax transverse area ratio (LTR) immediately before birth is of diagnostic value for the prediction of postnatal short-term outcomes in cases of isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed the cases of fetal isolated left-sided CDH managed at our institution between April 2008 and July 2016. We divided the patients into 2 groups based on LTR immediately before birth, using a cut-off value of 0.08. We compared the proportions of subjects within the 2 groups who survived until discharge using Fisher's exact test. Further, using Spearman's rank correlation, we assessed whether LTR was correlated with length of stay, duration of mechanical ventilation, and supplemental oxygen. Twenty-nine subjects were included (5 with LTR < 0.08, and 24 with LTR ≥ 0.08). The proportion of subjects surviving until discharge was 40% (2/5) for patients with LTR < 0.08, as compared with 96% (23/24) for those with LTR ≥ 0.08. LTR measured immediately before birth was negatively correlated with the postnatal length of stay (Spearman's rank correlation coefficient, rs = −0.486), and the duration of supplemental oxygen (rs = −0.537). Further, the duration of mechanical ventilation was longer in patients with a lower LTR value. LTR immediately before birth is useful for the prediction of postnatal short-term outcomes in fetuses with isolated left-sided CDH. In particular, patients with prenatal LTR value less than 0.08 are at increased risk of postnatal death.
      PubDate: 2017-08-10T11:00:28.083419-05:
      DOI: 10.1111/cga.12243
  • Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation
    • Authors: Nobuhiko Okamoto; Eiji Ehara, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto
      Abstract: Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX11 mutation. He showed the CSS phenotype and coarctation of the aorta. Sox11 is known to be associated with cardiac outflow development in mouse studies. Therefore cardiac anomalies might be a important complication in patients with SOX11 mutations.
      PubDate: 2017-08-08T10:15:43.096807-05:
      DOI: 10.1111/cga.12242
  • Interkinetic nuclear migration in the tracheal and esophageal epithelia of
           the mouse embryo: Possible implications for tracheo-esophageal anomalies
    • Authors: Ryo Kaneda; Yuko Saeki, Dereje Getachew, Akihiro Matsumoto, Motohide Furuya, Noriko Ogawa, Tomoyuki Motoya, Ashiq Mahmood Rafiq, Esrat Jahan, Jun Udagawa, Ryuju Hashimoto, Hiroki Otani
      Abstract: Interkinetic nuclear migration (INM) is a cell polarity-based phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium in synchrony with the cell cycle. INM is suggested to be at least partially cytoskeleton-dependent and to regulate not only the proliferation/differentiation of stem/progenitor cells but also the localized/overall size and shape of organs/tissues. INM occurs in all three of the germ-layer derived epithelia, including the endoderm-derived gut. However, INM has not been documented in the esophagus and respiratory tube arising from the anterior foregut. Esophageal atresia with or without trachea-esophageal fistula (EA/TEF) is a relatively common developmental defect. Transcription factors and signaling molecules have been implicated in EA/TEF, but the etiology of EA/TEF—which has been suggested to involve cell polarity-related mechanisms—remains highly controversial. In the present study, we first examined whether INM exists in the trachea and esophagus of mouse embryos at embryonic day 11.5 (E11.5), just after separation of the two tubes from the anterior foregut. By labeling the DNA-synthesizing stem cell nuclei with 5-ethynyl-2'-deoxyuridine, a nucleotide analogue, and statistically analyzing chronological changes in the distribution pattern of the labeled nuclei by using multidimensional scaling, we showed the existence of INM in both the esophagus and trachea, with differences in the INM magnitude and cycle pattern. We further showed morphological changes from the INM-based pseudostratified single layer to the stratified multilayer in the esophageal epithelium in association with a temporal loss/perturbation of AB polarity, suggesting a possible relation with the pathogenesis of EA/TEF.
      PubDate: 2017-08-06T20:55:21.507206-05:
      DOI: 10.1111/cga.12241
  • Progressive subglottic stenosis in a child with Pallister-Killian syndrome
    • Authors: Tadashi Shiohama; Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo
      Abstract: Pallister-Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis.
      PubDate: 2017-07-26T07:45:25.108826-05:
      DOI: 10.1111/cga.12240
  • Unilateral Lung Agenesis, Aplasia or Hypoplasia – which one is
    • Authors: Khristopher M Nguyen; Snehal Vala, Sarah Milla, Lokesh Guglani
      Abstract: Congenital lung malformations can lead to symptoms in the immediate newborn period or early childhood, but may also be diagnosed incidentally on routine imaging or autopsy, especially if the individual has remained asymptomatic. We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis.
      PubDate: 2017-07-25T07:35:40.625859-05:
      DOI: 10.1111/cga.12239
  • Whole Genome SNP Genotyping in a Family Segregating Developmental
           Dysplasia of the Hip detected Runs of Homozygosity on Chromosomes 15q13.3
           and 19p13.2
    • Authors: Sulman Basit; Essa Alharby, Alia M. Albalawi, Khalid I. Khoshhal
      Abstract: Developmental dysplasia of the hip (DDH) is one of the most prevalent developmental orthopaedic diseases worldwide. DDH is a spectrum of anatomical abnormalities of the hip joint and is characterized by premature arthritis in later life. Sporadic cases have been reported more frequently, however, some studies have reported families segregating DDH. Studies have suggested that the genetic factors play a significant role in the development of DDH. In order to detect genetic defect underlying DDH, we performed Sanger sequencing of all DDH associated genes, whole genome SNP genotyping and exome sequencing in a Saudi family with 4 individuals having DDH. Sanger sequencing of all known genes did not identify any pathogenic variant. Genotype data analysis using HomozygosityMapper identified shared homozygous regions on chromosome 15q13.3 and chromosome 19p13.2 flanked by rs17228178-rs1534200 and rs466123-rs2112461, respectively. This data was also analysed by cnvpartition software for identification of DDH associated CNVs. A shared copy number gain of ~15 kb on chr6p21.32 (chr6:33,053,906-33,069,893) was discovered in all affected individuals. Partial gain of this region has also been found in unaffected sibling of this family. Exome data did not reveal any candidate sequence variant. Whole genome sequencing is required to identify deep intronic variants in the shared homozygous regions. Identification of genetic variants involved in pathogenesis of DDH may open up interesting perspectives into the function of the gene(s) in hip joint development.
      PubDate: 2017-07-10T17:55:48.431184-05:
      DOI: 10.1111/cga.12235
  • Pentalogy of Cantrell in a monozygotic twin with a giant omphalocele
           firmly attached to the amniotic membrane: successful prenatal diagnosis
           and cesarean delivery
    • Authors: Tomonobu Kanasugi; Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama
      PubDate: 2017-07-07T08:15:34.649375-05:
      DOI: 10.1111/cga.12237
  • Congenital duodenal and multiple jejunal atresia with malrotation in a
           patient with Down syndrome
    • Authors: Tsubasa Shironomae; Miwa Satomi, Tsuyoshi Kuwahara, Yoshitomo Yasui, Miyuki Kohno
      PubDate: 2017-07-04T22:50:21.868962-05:
      DOI: 10.1111/cga.12236
  • Three-dimensional models of the segmented human fetal brain generated by
           magnetic resonance imaging
    • Authors: Yutaka Yamaguchi; Reina Miyazaki, Mikako Kamatani, Chigako Uwabe, Haruyuki Makishima, Momoko Nagai, Motoki Katsube, Akira Yamamoto, Hirohiko Imai, Katsumi Kose, Kaori Togashi, Shigehito Yamada
      Abstract: Recent advances in imaging technology have enabled us to obtain more detailed images of the human fetus in a nondestructive and noninvasive manner. Through detailed images, elaborate three-dimensional (3D) models of the developing brain can be reconstructed. The segmentation of the developing brain has been determined by serial sections. Therefore, in this study, we attempted to develop a 3D model of the fetal brain using magnetic resonance image (MRI). MR images from 19 specimens (11 embryonic specimens and eight fetal specimens from 5.2 to 225 mm in crown rump length) were used to reconstruct 3D models of regionalized developing brains. From this analysis, we succeeded in registering a maximum of nine landmarks on MR images and reconstructing 19 sequential models of the regionalized developing brain. To confirm the validity of the landmarks, we also compared our results with three serial sections from the Kyoto Collection; the same morphological characteristics were observed on both serial sections and MRI. The morphological minutiae could be found on MR images, and regionalized models of the developing brain could be reconstructed. These results will be useful for clinical diagnosis of living fetuses in utero.
      PubDate: 2017-05-11T05:55:40.740154-05:
      DOI: 10.1111/cga.12229
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