Holoprosencephaly: variation of expression in face and brain in three sibs.
A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.
Zwetsloot
C P
CP
Department of Neurology, University Hospital Leiden, The Netherlands.
Brouwer
O F
OF
Maaswinkel-Mooy
P D
PD
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D002971:Cleft Lip; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D005190:Family; D005260:Female; D005625:Frontal Lobe / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed