Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants.
Abstract
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, 5 Japanese individuals with Apert syndrome from 5 yea...
Source: Congenital Anomalies - June 30, 2016 Category: Genetics & Stem Cells Authors: Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto ‐Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida Tags: Original Article Source Type: research
The dynamics of gyrification in the human cerebral cortex during development
This study quantitatively characterized cortical gyrus folding over human neocortical development by calculating the gyrification index (GI) in 22 human fetal specimens from 16 to 40 weeks with magnetic resonance imaging data. Gl values remained constant at approximately 1.0 until the fetal specimens reached 500 g body weight and 200 mm crown‐ramp length (CRL), respectively, and then increased in correlation with the body weight and CRL. The rostrocaudal GI distribution in the cerebral cortex revealed a correspondence of GI peaks with indentations of early‐generated primary sulci at 21 weeks of gestation and mo...
Source: Congenital Anomalies - June 30, 2016 Category: Genetics & Stem Cells Authors: Ririko Yoshida, Koichi Ishizu, Shigehito Yamada, Chigako Uwabe, Tomohisa Okada, Kaori Togashi, Tetsuya Takakuwa Tags: Original Article Source Type: research
Remnant Cartilage in the Middle Ear
(Source: Congenital Anomalies)
Source: Congenital Anomalies - June 30, 2016 Category: Genetics & Stem Cells Authors: Jeon Mi Lee, Sung Huhn Kim, Jae Young Choi Tags: Note Source Type: research
Mechanism responsible for D ‐transposition of the great arteries: is this part of the spectrum of right isomerism?
Abstract
D‐transposition of the great arteries (TGA) is one of the most common conotruncal heart defects at birth and is characterized by a discordant ventriculoarterial connection with a concordant atrioventricular connection. The morphological etiology of TGA is an inverted or arrested rotation of the heart outflow tract (OFT, conotruncus), by which the aorta is transposed in the right ventral direction to the pulmonary trunk. The rotational defect of the OFT is thought to be attributed to hypoplasia of the subpulmonic conus, which originates from the left anterior heart field (AHF) residing in the mesodermal core of t...
Source: Congenital Anomalies - June 20, 2016 Category: Genetics & Stem Cells Authors: Yuji Nakajima Tags: Review Article Source Type: research
Impact of the Introduction of Non ‐Invasive Prenatal Genetic Testing on Invasive Tests – A Single‐Center Study in Japan
(Source: Congenital Anomalies)
Source: Congenital Anomalies - June 8, 2016 Category: Genetics & Stem Cells Authors: Masaki Sekiguchi, Aiko Sasaki, Seiji Wada, Nobuaki Ozawa, Haruhiko Sago Tags: Note Source Type: research
Cartilage ‐hair hypoplasia associated with isolated hypoganglionosis: A case report
We present a male patient with cartilage‐hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA‐processing complex gene identified compound heterozygous mutations consisted with previously reported mutations; n.‐14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage‐hair hypoplasia associated wit...
Source: Congenital Anomalies - June 7, 2016 Category: Genetics & Stem Cells Authors: Yoshitomo Yasui, Miyuki Kohno, Syouichi Nishida, Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Sadayoshi Takahashi, Yo Niida Tags: Case Report Source Type: research
Syndromic microphthalmia ‐3 caused by a mutation on gene SOX2 in a Colombian male patient.
Abstract
Syndromic microphthalmia‐3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a four year‐old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia‐3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic tes...
Source: Congenital Anomalies - May 19, 2016 Category: Genetics & Stem Cells Authors: Andr és Felipe Ramirez‐Botero, Harry Pachajoa Tags: Case Report Source Type: research
Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing – report of a novel homozygous missense FRAS1 mutation
(Source: Congenital Anomalies)
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Jakub Kornacki, Anna Sowińska‐Seidler, Magdalena Socha, Mariola Ropacka, Aleksander Jamsheer Tags: Note Source Type: research
Mechanism responsible for D‐transposition of the great arteries: is this part of the spectrum of right isomerism?
Abstract
D‐transposition of the great arteries (TGA) is one of the most common conotruncal heart defects at birth and is characterized by a discordant ventriculoarterial connection with a concordant atrioventricular connection. The morphological etiology of TGA is an inverted or arrested rotation of the heart outflow tract (OFT, conotruncus), by which the aorta is transposed in the right ventral direction to the pulmonary trunk. The rotational defect of the OFT is thought to be attributed to hypoplasia of the subpulmonic conus, which originates from the left anterior heart field (AHF) residing in the mesodermal core of t...
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Yuji Nakajima Tags: Review Article Source Type: research
Impact of the Introduction of Non‐Invasive Prenatal Genetic Testing on Invasive Tests – A Single‐Center Study in Japan
(Source: Congenital Anomalies)
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Masaki Sekiguchi, Aiko Sasaki, Seiji Wada, Nobuaki Ozawa, Haruhiko Sago Tags: Note Source Type: research
Cartilage‐hair hypoplasia associated with isolated hypoganglionosis: A case report
We present a male patient with cartilage‐hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA‐processing complex gene identified compound heterozygous mutations consisted with previously reported mutations; n.‐14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage‐hair hypoplasia associated wit...
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Yoshitomo Yasui, Miyuki Kohno, Syouichi Nishida, Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Sadayoshi Takahashi, Yo Niida Tags: Case Report Source Type: research
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly
Abstract
Synpolydactyly (SPD) is an autosomal dominant limb malformation with a distinctive combination of syndactyly and polydactyly. SPD is clinically heterogeneous and could be genetically classified into three types. The clinical phenotype of SPD is complicated by its variable expressivity. In the present study, whole exome sequencing (WES) was used to identify the affected gene(s) in a Chinese family with atypical SPD phenotype. Our results showed that a novel heterogenous nonsense mutation (c.556C > T, p.R186X) in HOXD13 was associated with this SPD case. Due to variable expressivity, the diagnosis of a clinic...
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Bo Wang, Niu Li, Juan Geng, Zhigang Wang, Qihua Fu, Jian Wang, Yunlan Xu Tags: Original Article Source Type: research
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features
Abstract
Interstitial deletions of the 16q centromeric region are rarely reported. A microdeletion of the 16q12.2q21 region was identified in a patient with intellectual disability, epilepsy, short stature, and distinctive features; including up‐slanting palpebral fissures, hypertelorism, epicanthic folds, anteverted nares, simple philtrum, thin upper lip vermilion, high arched palate, posteriorly rotated ears, and overlapping toes in his right foot. Although the deleted region includes the genes responsible for neurological impairments (GNOA1, GPR56, KATNB1, and BBS2), haploinsufficiency of these genes would not be asso...
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Toshiyuki Yamamoto, Keiko Shimojima, Sawako Yamazaki, Kanju Ikeno, Jun Tohyama Tags: Case Report Source Type: research
Syndromic microphthalmia‐3 caused by a mutation on gene SOX2 in a Colombian male patient.
Abstract
Syndromic microphthalmia‐3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a four year‐old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia‐3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic tes...
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Andrés Felipe Ramirez‐Botero, Harry Pachajoa Tags: Case Report Source Type: research
Odontoblasts: specialized hard‐tissue‐forming cells in the dentin‐pulp complex
This article is protected by copyright. All rights reserved. (Source: Congenital Anomalies)
Source: Congenital Anomalies - April 30, 2016 Category: Genetics & Stem Cells Authors: Nobuyuki Kawashima, Takashi Okiji Tags: Invited Review Article Source Type: research
