Osteoglophonic dwarfism in two generations.
نویسندگان
چکیده
A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 20 6 شماره
صفحات -
تاریخ انتشار 1983