Autosomal recessive alobar holoprosencephaly with essentially normal faces.
نویسندگان
چکیده
Holoprosencephaly is associated with a diagnostic face approximately 80% of the time. We report three siblings with alobar holoprosencephaly and essentially normal faces. A similar family was reported by Khan et al. [1970: Dev Med Child Neurol 12:71-76]. Alobar holoprosencephaly with essentially normal faces has also been observed in infants of diabetic mothers [Barr et al., 1983: J Pediatr 102:565-568].
منابع مشابه
Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.
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ورودعنوان ژورنال:
- American journal of medical genetics
دوره 112 1 شماره
صفحات -
تاریخ انتشار 2002