伴有局灶性真皮发育不全的裂手/裂足畸形（戈尔茨综合征）。
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome).
作者信息
Al Kaissi Ali, Safi Hatem, Ghachem Maher Ben, Grill Franz
机构信息
Department of Orthopaedics, Orthopaedic Hospital of Speising, Vienna, Austria.
出版信息
J Coll Physicians Surg Pak. 2010 Nov;20(11):770-2.
We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic.
我们报告了一名6个月大的女童，她表现出局灶性真皮发育不全的表型特征。记录到与典型皮肤变化相关的明显肢体畸形。家族史中有高频率的自然流产和男性死产。男性死产是支持X连锁显性遗传模式的一个标志。尽管存在严重的手足畸形，但颅底和管状骨出现硬化。
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