Microcephaly in familial holoprosencephaly.
The holoprosencephaly sequence (HS) is characterized by abnormalities in forebrain cleavage and midface development. Familial holoprosencephaly has been reported in several families and there appears to be variable expression of the disorder in those who inherit the gene. Previous investigators have suggested hypotelorism and/or missing central incisors as mild manifestations of autosomal dominant HS. We evaluated a large kindred with three individuals with severe brain anomalies and 12 individuals with minor manifestations of the disorder. The most consistent sign in those mildly affected was microcephaly. We suggest that head circumference is an important part of the evaluation of the relatives of a patient with holoprosencephaly.
Ardinger
H H
HH
Dept. of Pediatrics, University of Iowa, Iowa City 52242.
Bartley
J A
JA
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree