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Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: A newly recognized syndrome?
Author(s) -
Rajab A.,
Khaburi M.,
Spranger S.,
Kunze J.,
Spranger J.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20245
Subject(s) - short stature , acanthosis nigricans , medicine , hepatosplenomegaly , endocrinology , pediatrics , lipodystrophy , hirsutism , insulin , disease , insulin resistance , family medicine , polycystic ovary , human immunodeficiency virus (hiv) , antiretroviral therapy , viral load
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. © 2003 Wiley‐Liss, Inc.