| Literature DB >> 9066878 |
W Courtens1, E Vamos, C Christophe, A Schinzel.
Abstract
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.Entities:
Mesh:
Year: 1997 PMID: 9066878 DOI: 10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299