双侧近端指骨：家族性先天性弯指畸形的一种罕见表现。
Bilateral proximal delta phalanges: an unusual presentation of familial congenital clinodactyly.
作者信息
Albright Steven B, Xue Amy S, Koshy John C, Orth Robert C, Hollier Larry H
出版信息
Hand (N Y). 2011 Sep;6(3):340-3. doi: 10.1007/s11552-011-9339-3. Epub 2011 Jun 11.
Abstract
We report a unique case of bilateral proximal delta phalanges with secondary distal accessory ossification centers of the long fingers in a 16-month-old boy. The bony anomalies presented as severe ulnar deviation at the proximal interphalangeal joints bilaterally. This is a unique occurrence of congenital clinodactyly which has not been previously reported. Several family members show similar deformity, although to lesser degrees, suggesting an autosomal dominant mode of inheritance with incomplete penetrance and variable expressivity.
摘要
我们报告了一例独特的病例，一名16个月大的男孩双侧近端指骨三角骨，伴有长手指远端继发性副骨化中心。双侧近端指间关节处的骨异常表现为严重的尺侧偏斜。这是一种先天性弯指畸形的独特病例，此前未见报道。几名家庭成员有类似畸形，尽管程度较轻，提示为常染色体显性遗传模式，具有不完全外显率和可变表达性。
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