The acrocallosal syndrome: expansion of the phenotypic spectrum.
A family demonstrating the acrocallosal syndrome in a female proband whose sister had anencephaly is described. Two similar cases were found in the literature (Gelman-Kohan et al., 1991; Cataltepe and Tuncbilek, 1992). Analysis of the multiplex family data suggests that anencephaly may be an extreme manifestation of the spectrum of brain anomalies associated with the acrocallosal syndrome.
Lurie
I W
IW
Department of Pediatrics, University of Maryland at Baltimore, School of Medicine 21201.
Naumchik
I V
IV
Wulfsberg
E A
EA
D000328:Adult; D061085:Agenesis of Corpus Callosum; D000757:Anencephaly / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D017689:Polydactyly; D013577:Syndrome