Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?
We report three male siblings with mild mental retardation, congenital cataract, sensorineural deafness, hypogonadism, hypertrichosis and short stature. This combination has not been previously reported and we suggest this is a new syndrome. Although X-linked recessive inheritance cannot be fully excluded, we favour autosomal recessive inheritance because of parental consanguinity.
Schaap
C
C
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Taylor
D
D
Baraitser
M
M
D000293:Adolescent; D001827:Body Height; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002648:Child; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D005192:Family Health; D005881:Gingiva / Q000002:abnormalities; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006965:Hyperplasia / Q000235:genetics; D006983:Hypertrichosis / Q000175:diagnosis* / Q000235:genetics; D007006:Hypogonadism / Q000175:diagnosis* / Q000235:genetics; D007180:Incisor / Q000002:abnormalities; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D013577:Syndrome