Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature [0.03%]
软骨发育不全合并胆道闭锁：罕见关联及文献回顾
Ranjit I Kylat
Ranjit I Kylat
Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the...
Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant [0.03%]
埃及女婴腓骨发育不全、尺状胫骨弯曲症和并指(OAIC)综合征与Fuhrmann综合征的重叠
Ebtesam M Abdalla,Ahmed A El-Beheiry
Ebtesam M Abdalla
We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented ...
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia [0.03%]
与法洛四联症和先天性膈疝相关的克林费尔特综合征
Sethuraman Swaminathan,Sudheer R Gorla,Deborah S Barbouth
Sethuraman Swaminathan
Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital di...
Ranjit I Kylat
Ranjit I Kylat
Mycophenolate is often used in the management of systemic lupus erythematosus. It has often been associated with significant fetal embryopathy, including fetal loss and multiple anomalies. The Food and Drug Administration has directed that ...
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2 [0.03%]
Baraitser-Winter综合征2型的临床表型及遗传特征分析
Tanya C Allawh,Barry Scott Brown
Tanya C Allawh
An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned ...
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings [0.03%]
PTCH1基因突变患者的多系统受累的临床及影像学表现
Antonio Richieri-Costa,Siulan Vendramini-Pittoli,Nancy Mizue Kokitsu-Nakata et al.
Antonio Richieri-Costa et al.
In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T...
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case [0.03%]
一个新的手足分裂畸形伴长骨缺损的家系病例报告
Carmela Fusco,Pasquelena De Nittis,Ali Abdullah Alfaiz et al.
Carmela Fusco et al.
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported ...
Anterior Abdominal Wall Defects, Diaphragmatic Hernia, and Other Major Congenital Malformations of the Musculoskeletal System in Barbados, 1993-2012 [0.03%]
巴布亚新几内亚1993年至2012年的腹壁缺损、膈疝及其他主要先天性肌肉骨骼系统畸形
Keerti Singh,Alok Kumar
Keerti Singh
This study describes the prevalence and patterns of major congenital malformations of the musculoskeletal system and the resulting morbidity and mortality. It is a retrospective population-based study over the period 1993 to 2012. The overa...
Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation [0.03%]
基因芯片在智力障碍中的作用：现存系统在拷贝数变异解读中的实用性
Hela Ben Khelifa,Najla Soyah,Audrey Labalme et al.
Hela Ben Khelifa et al.
Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or multiple congenital anomalies. However, the clinical significance of some microimbalances is no...
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features [0.03%]
DYRK1A、KARS和KAT6A的新致病突变与智力障碍及其他表型相关性研究
Clark R Murray,Samantha N Abel,Matthew B McClure et al.
Clark R Murray et al.
Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative varian...