Autosomal recessive alobar holoprosencephaly with essentially normal faces

Am J Med Genet. 2002 Sep 15;112(1):28-30. doi: 10.1002/ajmg.10587.

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].

Publication types

  • Case Reports

MeSH terms

  • Face*
  • Fatal Outcome
  • Female
  • Genes, Recessive*
  • Holoprosencephaly / genetics
  • Holoprosencephaly / pathology*
  • Humans
  • Infant
  • Infant, Newborn
  • Male