Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
نویسندگان
چکیده
A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders.
منابع مشابه
Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 24 10 شماره
صفحات -
تاریخ انتشار 1987