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Autosomal recessive alobar holoprosencephaly with essentially normal faces

✍ Scribed by Barr, Mason ;Cohen, M. Michael

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 89 KB
Volume: 112
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10587

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✦ Synopsis

Abstract

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]. © 2002 Wiley‐Liss, Inc.

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