Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
نویسندگان
چکیده
The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 29 1 شماره
صفحات -
تاریخ انتشار 1992