Article
Apert syndrome with omphalocele: a case report.
Birth defects research. Part A, Clinical and molecular teratology - 1 Sept 2014
Ercoli Gabriel, Bidondo María Paz, Senra Blanca Cristina, Groisman Boris
Abstract excerpt
Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical...
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