Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.

Abstract

We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. MADB is a very rare illness, characterized by short stature, mandibular hypoplasia, acro-osteolysis in hands, feet and clavicles, lipodystrophy, changes in skin pigments and skin calcinosis at knees and hands. Diagnosis was confirmed by molecular study that showed two compound heterozygous variants in ZMPSTE24 gene, c.1085dup p.(Leu362Phefs*19) and c.794A>G p.(Asn265Ser). This article could help in establishing the correlation between genotype and phenotype of this disorder, comparing with other cases previously described.

• Authors: Pablo I Alarcón, Ignacia Mujica, Patricia Sanz, Cristian J García, Simone Gilgenkrantz
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 179 Issue 6 Pg. 893-895 (06 2019) ISSN: 1552-4833 [Electronic] United States
• PMID: 30919593 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2019 Wiley Periodicals, Inc.

Chemical References

• Membrane Proteins
• Metalloendopeptidases
• ZMPSTE24 protein, human

Topics

• Adolescent
• Chile
• Craniofacial Abnormalities (diagnosis, genetics)
• Facies
• Female
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genotype
• Humans
• Lipodystrophy (diagnosis, genetics)
• Membrane Proteins
• Metalloendopeptidases
• Mutation
• Phenotype
• Radiography
• Exome Sequencing