Ontology highlight
ABSTRACT:
SUBMITTER: Shastry S
PROVIDER: S-EPMC3050107 | biostudies-other | 2010 Oct
REPOSITORIES: biostudies-other
Shastry Savitha S Simha Vinaya V Godbole Koumudi K Sbraccia Paolo P Melancon Serge S Yajnik Chittaranjan S CS Novelli Giuseppe G Kroiss Matthias M Garg Abhimanyu A
The Journal of clinical endocrinology and metabolism 20100714 10
<h4>Context</h4>Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes.<h4>Objective</h4>The objective of the study was to report a novel syndrome with some overlapping features with MAD.<h4>Results</h4>We report seven patients with mandibular hypoplasia, deafness, progeroid features (MDP), and associated lipodystrophy. Thes ...[more]