Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.
A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003638:Deafness / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed; D012640:Seizures / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*