Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones

Clinical Features

Rajab et al. (2003) reported 3 patients, including 2 sibs, 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. No abnormalities of lipid or carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, or hirsutism were found.

Inheritance

Rajab et al. (2003) suggested that the occurrence of this disorder in sibs born to consanguineous parents and the observation of a third patient from the same Omani tribal unit suggested autosomal recessive inheritance.