Autosomal recessive alobar holoprosencephaly with essentially normal faces
Author(s) -
Barr Mason,
Cohen M. Michael
Publication year - 2002
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.10587
Subject(s) - holoprosencephaly , cyclopia , medicine , anatomy , biology , genetics , pregnancy , fetus
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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