Sensorineural deafness in the FG syndrome: report on four new cases.
We report on four new cases of FG syndrome with typical manifestations of this X-linked inherited condition and note a hitherto undescribed sign, sensorineural deafness. The association between sensorineural deafness and imperforate anus is likely to represent more than a chance occurrence, given its presence also in the Townes-Brocks syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001006:Anus, Imperforate / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome