毛鼻指骨综合征。3代4例(作者译)]。

Monatsschrift fur Kinderheilkunde Pub Date : 1980-04-01
M B Ranke, H C Heitkamp
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引用次数: 0

摘要

毛鼻指骨综合征是一种罕见的异常,其特征是典型的颅面畸形症状以及毛发和指骨的异常。通常与珀西丝样髋关节改变、低出生体重和身材矮小有关。常染色体显性遗传很普遍。
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[The tricho-rhino-phalangeal syndrom. Four cases in 3 generations (author's transl)].

The tricho-rhino-phalangeal syndrome is a rare anomaly characterized by typical cranio-facial dysmorphic signs and anomalies of hair and phalanges. Frequently associated are Perthes-like hip changes, low birth weight and short stature. Autosomal-dominant inheritance is prevalent.

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