Article
Spectrum of the acrocallosal syndrome.
American journal of medical genetics - 15 Feb 2002
Koenig Rainer, Bach Alexia, Woelki Ulrike, Grzeschik Karl-Heinz, Fuchs Sigrun
Abstract excerpt
Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here report on three patients with ACS demonstrating a spectrum from mild to severe involvement. Two patients had only mild to moderate mental retardation at the age of 2(1/2) and 4...
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