Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
Abstract
Focal dermal hypoplasia is a rare genetic disease characterized 8‐year‐old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 23, 2016 Category: Genetics & Stem Cells Authors: Andres Felipe Ramirez‐Botero, Sabrina Eichler, Arndt Rolfs, Harry Pachajoa Tags: Case Report Source Type: research
Novel splice‐site mutation in WDR62 revealed by whole‐exome sequencing in a Sudanese family with primary microcephaly
Abstract
The WDR62 gene encodes a scaffold protein of the c‐Jun N‐terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal recessive primary microcephaly 2, with or without cortical malformations (MCPH2). Using whole exome sequencing we uncovered a novel WDR62 variant; c.390G > A, from two Sudanese siblings whose parents are first cousins. The patients suffered MCPH2 with incomplete lissencephaly and developmental ...
Source: Congenital Anomalies - April 23, 2016 Category: Genetics & Stem Cells Authors: Fatma Bastaki, Madiha Mohamed, Pratibha Nair, Fatima Saif, Nafisa Tawfiq, Gururaj Aithala, Majdi El‐Halik, Mahmoud Al‐Ali, Abdul Rezzak Hamzeh Tags: Short Communication Source Type: research
Issue Information
Pseudostratified columnar epithelium (top left, SEM) and apical mitosis (bottom left, arrowhead, HE staining) in the developing ureter of mesoderm origin suggest interkinetic nuclear migration which is related with apical primary cilia (top right, SEM, white arrowheads; bottom right, γ‐tubulin immunofluorostaining, green). Further details can be seen in the article by Motoya et al. in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 23, 2016 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
High Le Fort I osteotomy for correction of mid ‐face deformity in Crouzon syndrome
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 18, 2016 Category: Genetics & Stem Cells Authors: Yasumichi Nakajima, Hiroyuki Nakano, Tomoki Sumida, Tomohiro Yamada, Kazuya Inoue, Goro Sugiyama, Katsuaki Mishima, Yoshihide Mori Tags: Case Report Source Type: research
High Le Fort I osteotomy for correction of mid‐face deformity in Crouzon syndrome
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 18, 2016 Category: Genetics & Stem Cells Authors: Yasumichi Nakajima, Hiroyuki Nakano, Tomoki Sumida, Tomohiro Yamada, Kazuya Inoue, Goro Sugiyama, Katsuaki Mishima, Yoshihide Mori Tags: Case Report Source Type: research
Vesico ‐amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 7, 2016 Category: Genetics & Stem Cells Authors: Tomonobu Kanasugi, Akihiko Kikuchi, Gen Haba, Yuri Sasaki, Chizuko Isurugi, Rie Oyama, Toru Sugiyama Tags: Case Report Source Type: research
Insights into 6Q21‐Q22: Refinement of the critical region for acro‐cardio‐facial syndrome
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - March 30, 2016 Category: Genetics & Stem Cells Authors: Donatella Milani, Giulia Anna Cagnoli, Marco Baccarin, Enrico Alfei, Silvana Guerneri, Susanna Esposito Tags: Case Report Source Type: research
Announcement
(Source: Congenital Anomalies)
Source: Congenital Anomalies - March 4, 2016 Category: Genetics & Stem Cells Tags: Society News Source Type: research
Maternal protein restriction that does not have an influence on the birthweight of the offspring induces morphological changes in kidneys reminiscent of phenotypes exhibited by intrauterine growth retardation rats
Abstract
Severe restriction of maternal protein intake to 6–8% protein diet results in intrauterine growth retardation (IUGR), low birthweight and high risk of metabolic syndrome in the adult life of the offspring. However, little information is available on the effects of maternal protein restriction on offspring under the conditions that does not have an influence on their birthweight of the offspring,. In the present study, pregnant rats were kept on a diet consisting of either 9% (low‐protein, Lp rats) or 18% (normal‐protein, Np rats) protein by weight/volume/etc. After birth, both Lp and Np rats were kept on a d...
Source: Congenital Anomalies - March 4, 2016 Category: Genetics & Stem Cells Authors: Ko Yuasa, Tomohiro Kondo, Hiroaki Nagai, Masaki Mino, Ai Takeshita, Toshiya Okada Tags: Original Article Source Type: research
Maternal factors in the origin of infantile hypertrophic pyloric stenosis: A population‐based case‐control study
In conclusion, our findings suggest that cases with IHPS had mothers with a higher proportion of hyperthyroidism and nalidixic acid treatment during pregnancy. (Source: Congenital Anomalies)
Source: Congenital Anomalies - March 4, 2016 Category: Genetics & Stem Cells Authors: Gabor Vermes, Daniel László, Andrew E. Czeizel†, Nándor Ács Tags: Original Article Source Type: research
Prevalence of cleft lip and/or palate in children from Lodz between years 1981–2010
Abstract
Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981–2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April ...
Source: Congenital Anomalies - March 4, 2016 Category: Genetics & Stem Cells Authors: Bogusław Antoszewski, Marta Fijałkowska Tags: Original Article Source Type: research
Issue Information
No abstract is available for this article. (Source: Congenital Anomalies)
Source: Congenital Anomalies - March 4, 2016 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Clinical study of 459 polydactyly cases in China, 2010 to 2014
This study was intended to shed light on the phenotypic manifestations of polydactyly in the recruited Chinese population and to characterize the medical literatures on this condition. A total of 459 well‐characterized polydactyly cases from Shanghai Children's Medical Center were recruited. Their phenotypes, inheritance patterns, and clinical heterogeneity were obtained from clinical medical records. It was found that 4.8% of cases were familial and 95.2% were sporadic. The proportions of preaxial and postaxial polydactyly types were 74.7% and 25.3%, respectively. In preaxial polydactyly, type I formed the overwhelming ...
Source: Congenital Anomalies - March 1, 2016 Category: Genetics & Stem Cells Authors: Ying Xiang, Jingxia Bian, Zhigang Wang, Yunlan Xu, Qihua Fu Tags: Original Article Source Type: research
The prevalence of isomerism from a European registry: live births, fetal deaths, and terminations of pregnancy
(Source: Congenital Anomalies)
Source: Congenital Anomalies - February 29, 2016 Category: Genetics & Stem Cells Authors: Rohit S. Loomba Tags: Note Source Type: research
High Le Fort I osteotomy for correction of mid‐face deformity in Crouzon syndrome Nakajima
Abstract
An 18‐year‐old woman with mild Crouzon syndrome was referred with malocclusion and mandibular protrusion. Examination revealed Class III canine and molar relationships, hypoplastic maxilla, 1‐mm overbite, and −2‐mm overjet. Analysis showed 69° sella‐nasion‐A, 73.6° sella‐nasion‐B, and −4.6° A point‐nasion‐B point angles. Polysomnography revealed respiratory disturbance and 6.3% oxygen desaturation indices of 5.4/h and 9.0/h. We performed double‐jaw surgery using high Le Fort I osteotomy and bilateral sagittal split ramus osteotomy for midfacial deformity correction. Twelve months post...
Source: Congenital Anomalies - February 29, 2016 Category: Genetics & Stem Cells Authors: Yasumichi Nakajima, Hiroyuki Nakano, Tomoki Sumida, Tomohiro Yamada, Kazuya Inoue, Goro Sugiyama, Katsuaki Mishima, Yoshihide Mori Tags: Case Report Source Type: research
