A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.
The proband and two maternal uncles were similarly affected by a unique constellation of mental retardation and physical abnormalities. There were severe retardation, growth less than the third percentile, and significantly delayed bone age. They manifested deafness, a flat nasal bridge, several ocular abnormalities, and a rudimentary scrotum with cryptorchidism, and one had a small penis. The proband also had onychodystrophy of his fingers and toes. Their birth weights and lengths were less than expected. No chromosomal or biochemical abnormality was detected. Both uncles died, but the proband is healthy at 4 years. Their phenotype is distinguished from other forms of X-linked mental retardation and appears to be a new syndrome.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005124:Eye Abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009295:Nasal Bone / Q000002:abnormalities; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome