关节病
医学
肌肉挛缩
表型
基因
解剖
上睑下垂
脊柱侧凸
先天性多发性关节炎
遗传学
生物
外科
作者
Mamatha Gowda,Shruthi Mohan,Devika Ramesh,Navya Chinta
出处
期刊:Clinical Dysmorphology
[Ovid Technologies (Wolters Kluwer)]
日期:2021-01-22
卷期号:30 (2): 100-103
被引量:5
标识
DOI:10.1097/mcd.0000000000000364
摘要
Distal arthrogryposis (DA) is a heterogeneous group of disorders with congenital, nonprogressive contractures affecting the joints of distal extremities. About 13 distinct subtypes have been defined based on phenotypic features and the different genes known to be causative typically encode for sarcomeric proteins of the contractile apparatus. Although most subtypes are inherited in autosomal dominant manner, distal arthrogryposis type 5D (DA5D) is the only type inherited as an autosomal recessive disorder with a prevalence of <1/1 000 000. We are reporting the phenotype of three members of a family affected by DA5D caused by a novel deletion in the ECEL1 gene. All of them exhibited the distal arthogryposis involving hands and feet, scoliosis, unilateral drooping shoulder, ptosis, central furrow over tip of the tongue and typical facial features.
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