title: Apert syndrome with omphalocele: a case report.
abstract: 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 variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele.
authors.affiliation: National Registry of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Ministry of Health, Buenos Aires, Argentina.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Ercoli
authors.forename: María Paz
authors.initials: MP
authors.lastname: Bidondo
authors.forename: Blanca Cristina
authors.initials: BC
authors.lastname: Senra
authors.forename: Boris
authors.initials: B
authors.lastname: Groisman
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D000649:Amniocentesis; D001118:Argentina; D004933:Esophageal Atresia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006554:Hernia, Umbilical / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D007621:Karyotyping; D008297:Male; D009154:Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012042:Registries; D014463:Ultrasonography
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: Apert syndrome; acrocephalosyndactyly type 1; omphalocele