title: Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?
abstract: We describe a brother and sister with craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism, small mouth, thin lips, pterygium colli, broad chest, widely spaced nipples and cutaneous second and third toe syndactyly. The children demonstrate some features of Noonan syndrome, but we believe that they have a different and distinctive phenotype. We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome.
authors.affiliation: Department of Clinical Genetics, The Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia Discipline of Paediatrics and Child Health, University of Sydney, Australia.
authors.forename: Ingrid B
authors.initials: IB
authors.lastname: Sinnerbrink
authors.forename: Lesley C
authors.initials: LC
authors.lastname: Adès
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D001827:Body Height; D001921:Brain / Q000002:abnormalities; D003103:Coloboma / Q000150:complications / Q000175:diagnosis; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D019066:Facies; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007640:Keratoconus / Q000150:complications / Q000175:diagnosis; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis; D010641:Phenotype; D013576:Syndactyly / Q000175:diagnosis; D013577:Syndrome