Autosomal recessive alobar holoprosencephaly with essentially normal faces.

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].