New autosomal recessive faciodigitogenital syndrome.
نویسندگان
چکیده
Most pedigrees of Aarskog's faciodigitogenital syndrome have suggested X linked inheritance. However, sex influenced autosomal dominant inheritance is also a possibility in some families. We describe an Arab family of normal consanguineous parents with five children (three males and two females) with some features of Aarskog syndrome in addition to some unusual hair changes. The possibility that this family represents a distinct previously unrecognised faciodigitogenital syndrome with short stature and hair abnormalities is suggested and discussed.
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عنوان ژورنال:
- Journal of medical genetics
دوره 25 6 شماره
صفحات -
تاریخ انتشار 1988