Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.
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.
Kelly
T E
TE
Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville.
Kirson
L
L
Wyatt
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014960:X Chromosome