Dominant transmission of Sprengel's shoulder and cleft palate.
نویسندگان
چکیده
SUMMARY We present a family showing apparently autosomal dominant transmission of Sprengel's shoulder with cleft palate. Some, but not all, of the kindred showed features of the Klippel-Feil syndrome. The association between these abnormalities is discussed. The isolated abnormality of cleft palate is considered to be inherited in a multifactorial manner, although when associated with lip pits, cleft palate is inherited as a Mendelian dominant condition (Van der Woude of the scapula) usually occurs as a sporadic event, but there are six cases of isolated Sprengel's shoulder showing Mendelian inheritance.2 We report a family in which these two abnormalities are associated and I, /) FIG 1 X-rays of cervical spine and shoulders of the proband.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 18 4 شماره
صفحات -
تاریخ انتشار 1981