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Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile
Author(s) -
Alarcón Pablo I.,
Mujica Ignacia,
Sanz Patricia,
García Cristian J.,
Gilgenkrantz Simone
Publication year - 2019
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.61139
Subject(s) - lipodystrophy , progeria , short stature , medicine , dermatology , hypoplasia , dysplasia , genetic disorder , osteolysis , pathology , genetics , surgery , gene , biology , disease , immunology , human immunodeficiency virus (hiv) , viral load , antiretroviral therapy
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.