Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son.
We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low-set, cup-shaped ears, thick, protruding lower lip, micrognathia, and mental retardation. We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndromes.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003638:Deafness / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome