Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.
We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.
Courtens
W
W
Laboratory of Cytogenetics, Brugmann University Hospital, Brussels, Belgium.
Vamos
E
E
Christophe
C
C
Schinzel
A
A
D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D000462:Algeria; D002972:Cleft Palate; D003241:Consanguinity; D003337:Corpus Callosum / Q000503:physiopathology; D006345:Heart Septal Defects, Ventricular / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017689:Polydactyly; D013577:Syndrome