Late ‐Presenting Congenital Diaphragmatic Hernia in a Child with Tmem70 Deficiency
(Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Adrijan Sarajlija, Martin Magner, Maja Djordjevic, Bozica Kecman, Blagoje Grujic, Marketa Tesarova, Predrag Minic Tags: Letter to the Editor Source Type: research
Miller ‐Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by Fluorescence in situ hybridization and G‐banding analysis using high resolution banding technique.
We report a fetus with lissencephaly diagnosed as Miller‐Dieker syndrome postnatally. G banded chromosome analysis revelaed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1‐,RARA+, SRY+, DYZ3+) by G‐banding analysis using high resolution banding technique. Fetal delayed cortical development will be the findings to perform further investigations including FISH analysis for MDS, a 17p13.3 microdeletion syndrome, pre/postnatally. This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Takashi Mishima, Michiko Watari, Iwaki Yutaka, Takumi Nagai, Miho Kawamata ‐Nakamura, Yukako Kobayashi, Satoko Fujieda, Mamoru Oikawa, Nobuhiro Takahashi, Mitsuaki Keira, Hiroshi Yoshida, Hidefumi Tonoki Tags: Case Report Source Type: research
The 56th Annual Meeting of the Japanese Teratology Society: New Developments and Future Perspectives of Teratology Study ‐ Translational Study to Link Teratology to Nutrition ‐ Overview
(Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Toshiaki Watanabe Tags: Overview Source Type: research
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1
We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293‐2A > T in FRAS1. We would like to highlight variable manifestations of Fraser syndrome and presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Shalini S. Nayak, Smrithi Salian, Anju Shukla, Mary Mathew, Katta M. Girisha Tags: Case Report Source Type: research
Unilateral occipital condylar dysplasia: 3 ‐dimensional multidetector computed tomography and magnetic resonance findings
(Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Do Hyung Lee, Bo ‐Kyung Je, Doran Hong, Sang‐Dae Kim, So‐Hee Eun Tags: Note Source Type: research
Systemic and maxillofacial characteristics of 11 Japanese children with Russell –Silver syndrome
Abstract
Russell–Silver syndrome (RSS) is a congenital anomaly characterized by intrauterine and postnatal growth retardation, typical facial features, fifth‐finger clinodactyly, and skeletal asymmetry. Although data on intrauterine and postnatal growth retardation have been reported, there are few reports concerning the typical maxillofacial morphology in individuals with RSS. The aim of this study was to describe the details of this systemic condition and to characterize maxillofacial morphology based on cephalograms in 11 Japanese patients (age range, 3.9–12.0 years) with RSS. All 11 individuals had intrauterine...
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Chiemi Sato, Takuya Ogawa, Risa Tsuge, Momotoshi Shiga, Michiko Tsuji, Yoshiyuki Baba, Kenjiro Kosaki, Keiji Moriyama Tags: Original Article Source Type: research
Prevalence of congenital limb defects: Data from birth defects registries in three provinces in Southern Thailand
In conclusion, the overall prevalence of CLD in the 3 southern Thailand provinces examined was 2.27 per 1000 births, and syndromic CLD was significantly higher in pregnant women aged ≥35 years than younger pregnant women. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun Tags: Original Article Source Type: research
Issue Information
Novel mutations were found in Vietnamese patients with Ellis‐van Creveld syndrome, a ciliopathy presenting with congenital heart defects, such as atrioventricular septal defect and common atrium, and hand anomalies, such as postaxial polydactyly, nail dystrophy (top), and short, broad metacarpal and phalangeal bones (bottom). Further details can be seen in the article by Nguyen et al. in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Insights into 6q21 ‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome
We report a child with a deletion of the 6q21‐q22 chromosomal region, providing some intriguing results about the correlation between this region and acro‐cardio‐facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 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
Regional hypoplasia of somatosensory cortex in growth ‐retarded mice (grt/grt)
Abstract
Growth‐retarded mouse (grt/grt) is a spontaneous mutant that is known as an animal model for primary congenital hypothyroidism caused by resistance to TSH signaling. The regional pattern of cerebral cortical hypoplasia was characterized in grt/grt mice. Ex vivo computed tomography (CT)‐based volumetry was examined in four regions of the cerebral cortex, i.e., prefrontal, frontal, parietal and occipito‐temporal regions, which were demarcated by structural landmarks on coronal CT images. A region‐specific reduced volume of the parietal cortical region covering most of the somatosensory cortex was noted in gr...
Source: Congenital Anomalies - July 1, 2016 Category: Genetics & Stem Cells Authors: Kazuhiko Sawada, Shigeyoshi Saito, Akari Sugasawa, Chika Sato, Junya Aoyama, Naoko Ohara, Miwa Horiuchi ‐Hirose, Tetsuya Kobayashi Tags: Short Communication Source Type: research
A 5 ‐HT2A/2C receptor agonist, 1‐(2,5‐dimethoxy‐4‐iodophenyl)‐2‐aminopropane, mitigates developmental neurotoxicity of ethanol to serotonergic neurons
Abstract
Prenatal ethanol exposure causes the reduction of serotonergic (5‐HTergic) neurons in the midbrain raphe nuclei. In the present study, we examined whether an activation of signaling via 5‐HT2A and 5‐HT2C receptors during the fetal period is able to prevent the reduction of 5‐HTergic neurons induced by prenatal ethanol exposure. Pregnant Sprague–Dawley rats were given a liquid diet containing 2.5 to 5.0% (w/v) ethanol on gestational days (GDs) 10 to 20 (Et). As a pair‐fed control, other pregnant rats were fed the same liquid diet except that the ethanol was replaced by isocaloric sucrose (Pf). Each Et a...
Source: Congenital Anomalies - July 1, 2016 Category: Genetics & Stem Cells Authors: Tsukasa Ishiguro, Hiromi Sakata ‐Haga, Yoshihiro Fukui Tags: Original Article Source Type: research
Odontoblasts: Specialized hard ‐tissue‐forming cells in the dentin‐pulp complex
Abstract
Odontoblasts are specialized cells that produce dentin and exhibit unique morphological characteristics; i.e., they extend cytoplasmic processes into dentinal tubules. While osteoblasts, which are typical hard‐tissue‐forming cells, are generated from mesenchymal stem cells during normal and pathological bone metabolism, the induction of odontoblasts only occurs once during tooth development, and odontoblasts survive throughout the lives of healthy teeth. During the differentiation of odontoblasts, signaling molecules from the inner enamel epithelium are considered necessary for the differentiation of odontobla...
Source: Congenital Anomalies - July 1, 2016 Category: Genetics & Stem Cells Authors: Nobuyuki Kawashima, Takashi Okiji Tags: Invited Review Article Source Type: research
Announcement
(Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2016 Category: Genetics & Stem Cells Tags: Society News Source Type: research
Issue Information
HE staining of the dental pulp of rat upper incisor. The initiation of odontoblast differentiation is observed at the late bell stage, and the dental papillae cells that are in contact with the inner enamel epithelium differentiate into odontoblasts. AB, alveolar bone; D, dentin; DP, dental papilla; OB, odontoblasts; SR, stellate reticulum. Further details can be seen in the article by Kawashima and Okiji in this issue. (Source: Congenital Anomalies)
Source: Congenital Anomalies - July 1, 2016 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Novel Homozygous Sequence Variants in the GDF5 Gene Underlie Acromesomelic Dysplasia type ‐Grebe (AMDG) in Consanguineous Families
Abstract
Acromesomelic dysplasia Grebe type (AMDG), characterized by severe knob like non‐functional fingers and short acromesomelic limbs, inherited in an autosomal recessive manner. Disease causing sequence variants in the GDF5 (Growth Differentiation Factor 5) gene, located on chromosome 20q11.22, are responsible for causing AMDG. In the study, presented here, two consanguineous families with AMDG were clinically and genetically characterized. After establishing linkage in the two families (A and B) to GDF5 gene on chromosome 20q11.22, Sanger DNA sequencing was performed in all available affected and unaffected member...
Source: Congenital Anomalies - June 30, 2016 Category: Genetics & Stem Cells Authors: Muhammad Umair, Afzal Rafique, Asmat Ullah, Farooq Ahmad, Raja Hussain Ali, Abdul Nasir, Muhammad Ansar, Wasim Ahmad Tags: Original Article Source Type: research
