Dominantly inherited microcephaly, hypotelorism and normal intelligence.
A family with dominantly inherited microcephaly, hypotelorism and normal intelligence is described. Their facial appearance is very similar, with malar hypoplasia. Psychometric testing in two generations revealed normal intelligence. Cranial CT scans showed no evidence of abnormality. This reports emphasises the need for family and psychometric studies in uncomplicated microcephaly.
Evans
D G
DG
Department of Paediatrics, British Military Hospital.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007360:Intelligence; D007361:Intelligence Tests; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014057:Tomography, X-Ray Computed