Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome).
نویسندگان
چکیده
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.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
دوره 20 11 شماره
صفحات -
تاریخ انتشار 2010