title: Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?
abstract: We present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense metaphyseal striations occurring in adolescence. Abnormalities of lipid and carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, and hirsutism were not found. Comparison of the condition of these patients with known syndromic lipodystrophies suggests that they represent a previously unrecognized genetic disorder. The occurrence in sibs born to consanguineous parents and a third patient from the same tribal unit suggest autosomal recessive inheritance.
authors.affiliation: Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman. drarajab@omantel.net.om
authors.forename: A
authors.initials: A
authors.lastname: Rajab
authors.forename: M
authors.initials: M
authors.lastname: Khaburi
authors.forename: S
authors.initials: S
authors.lastname: Spranger
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: J
authors.initials: J
authors.lastname: Spranger
mesh_terms: D000293:Adolescent; D000328:Adult; D001847:Bone Diseases / Q000151:congenital* / Q000000981:diagnostic imaging; D002648:Child; D003638:Deafness / Q000151:congenital*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008060:Lipodystrophy / Q000151:congenital*; D008297:Male; D011859:Radiography; D013577:Syndrome