Apert syndrome with omphalocele: A case report |
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| Authors: | Gabriel Ercoli María Paz Bidondo Blanca Cristina Senra Boris Groisman |
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| Affiliation: | 1. National Registry of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Ministry of Health, Buenos Aires, Argentina;2. Hospital Municipal Materno Infantil de San Isidro, Buenos Aires, Argentina |
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| 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. Birth Defects Research (Part A), 100:726–729, 2014. © 2014 Wiley Periodicals, Inc. |
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| Keywords: | Apert syndrome omphalocele acrocephalosyndactyly type 1 |
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