Ontology highlight
ABSTRACT:
SUBMITTER: Hucthagowder V
PROVIDER: S-EPMC1474103 | biostudies-literature | 2006 Jun
REPOSITORIES: biostudies-literature
Hucthagowder Vishwanathan V Sausgruber Nina N Kim Katherine H KH Angle Brad B Marmorstein Lihua Y LY Urban Zsolt Z
American journal of human genetics 20060410 6
Cutis laxa is a condition characterized by redundant, pendulous, and inelastic skin. We identified a patient with recessive inheritance of a missense mutation (169G-->A; E57K) in the Fibulin-4 gene. She had multiple bone fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneurysm, developmental emphysema, inguinal and diaphragmatic hernia, joint laxity, and pectus excavatum by age 2 years. Her skin showed markedly underdeveloped elastic fibers, and the ex ...[more]