A family with diaphyseal aclasis and peripheral dysostosis.
نویسندگان
چکیده
Autosomal dominant inheritance of a type of peripheral dysostosis occurred in a family with diaphyseal aclasis. The features of their type of peripheral dysostosis were short limbed short stature, normal intelligence, very stubby fingers, flat face and nose, shortened metacarpals and terminal phalanges, thickened beaten-copper skull vault, and advanced skeletal maturation.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 4 شماره
صفحات -
تاریخ انتشار 1980