Acrocallosal syndrome: additional manifestations.
The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation. This patient had characteristics of the ACS but also had a severe congenital heart defect and other visceral malformations. After comparing the ACS with and contrasting it to other disorders, we concluded that the internal organ abnormalities found in this patient probably represent further manifestations of the ACS.
Casamassima
A C
AC
Department of Pediatrics, New York Medical College, Valhalla, New York.
Beneck
D
D
Gewitz
M H
MH
Horowitz
M A
MA
Woolf
P K
PK
Pettersen
I M
IM
Shapiro
L R
LR
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D014781:Viscera / Q000473:pathology