Abstract
Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature. Cutaneous manifestations of these disorders vary broadly. Case report: We present a genetically confirmed case of MAD Type B in a two year-old boy born out of second degree consanguinity. Discussion: The report aims to increase awareness of the rare condition and emphasize the utility of genetic analysis in differentiating it from other differentials with a phenotypic overlap.
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