A Rare LMNA Missense Mutation Causing a Severe Phenotype of Mandibuloacral Dysplasia Type A: A Case Report

This case report describes a 6-year-old girl with a severe phenotype of mandibuloacral dysplasia type A (MADA) linked to a rare homozygous LMNA missense mutation (c.1579C>T). The patient exhibited subtotal alopecia, distinct craniofacial features, generalized lipodystrophy, joint stiffness, and significant bone and skin abnormalities. Radiological findings included severe bone dysplasia and osteopenia. MADA, an autosomal recessive disorder, typically results from the p.R527H mutation in the LMNA gene, but this case involves the rare p.R527C mutation, marking the sixth family reported with this mutation.