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Congenital Anomalies

Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
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...
March 14, 2018: Congenital Anomalies
Daisuke Higeta, Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
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...
March 14, 2018: Congenital Anomalies
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
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...
March 9, 2018: Congenital Anomalies
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
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)...
February 19, 2018: Congenital Anomalies
Chelna Galada, Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla
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.
February 6, 2018: Congenital Anomalies
Yuko Izumi, Yojiro Ooshima, Kazuhiro Chihara, Michio Fujiwara, Yoshihiro Katsumata, Kohei Shiota
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...
January 30, 2018: Congenital Anomalies
Yuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
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.
January 30, 2018: Congenital Anomalies
Houshang Rafighdoost, Mohammad Hashemi, Hossein Asadi, Gholamreza Bahari
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...
January 22, 2018: Congenital Anomalies
Mai Shimura, Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami
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)...
January 11, 2018: Congenital Anomalies
Ilária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa-Mendes, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
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).
January 11, 2018: Congenital Anomalies
Nandar Mya, Toshiko Furutera, Shigeru Okuhara, Tsutomu Kume, Masaki Takechi, Sachiko Iseki
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...
January 11, 2018: Congenital Anomalies
Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li
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.
January 2, 2018: Congenital Anomalies
Yuka Kirihata, Yoshiki Ban, Chiaki Nakamori, Hironori Takagi, Tomonori Hashimoto, Shunsuke Tsutsumi
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...
December 21, 2017: Congenital Anomalies
Robert Lachmann
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.
December 21, 2017: Congenital Anomalies
Beuy Joob, Viroj Wiwanitkit
No abstract text is available yet for this article.
December 12, 2017: Congenital Anomalies
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
No abstract text is available yet for this article.
December 12, 2017: Congenital Anomalies
Asmat Ullah, Maryam Khalid, Muhammad Umair, Sher Alam Khan, Muhammad Bilal, Saadullah Khan, Wasim Ahmad
No abstract text is available yet for this article.
December 12, 2017: Congenital Anomalies
Reina Miyazaki, Haruyuki Makishima, Jörg Männer, Hans-Georg Sydow, Chigako Uwabe, Tetsuya Takakuwa, Christoph Viebahn, Shigehito Yamada
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...
November 3, 2017: Congenital Anomalies
Hiroaki Aoyama
No abstract text is available yet for this article.
November 2017: Congenital Anomalies
Duy L Tran, Hideto Imura, Akihiro Mori, Satoshi Suzuki, Teruyuki Niimi, Maya Ono, Chisato Sakuma, Shinichi Nakahara, Tham T H Nguyen, Phuong T Pham, Viet Hoang, Van T T Tran, Minh D Nguyen, Nagato Natsume
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...
October 14, 2017: Congenital Anomalies
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