Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.Am J Med Genet. 1993 Feb 01; 45(3):353-5.AJ
We describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child.