肢端软骨发育不良，Hunter-Thompson 型
基因病名称(英)
Acromesomelic chondrodysplasia, Hunter-Thompson type
基因病名称
肢端软骨发育不良，Hunter-Thompson 型
统计
reviewed:1; annotated:0
交叉引用
201250,CN028907,D004392
描述(英)
An autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.
描述
侏儒症的一种常染色体隐性遗传形式。患者有肢体异常，中段和远端受累最严重，下肢比上肢受累更多。AMDH 的特征是正常的轴向骨骼和手脚内缺失或融合的骨骼元素。