Acrodysostosis: autosomal dominant transmission.
نویسندگان
چکیده
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
منابع مشابه
A family with diaphyseal aclasis and peripheral dysostosis.
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.
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 42 8 شماره
صفحات -
تاریخ انتشار 2005