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].
Barr
Mason
M
Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA. barr@med.umich.edu
Cohen
M Michael
MM
D005145:Face; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D016142:Holoprosencephaly / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male