title: Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?
abstract: 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.
authors.affiliation: Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
authors.forename: C
authors.initials: C
authors.lastname: Schaap
authors.forename: D
authors.initials: D
authors.lastname: Taylor
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: 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