Apert Syndrome with Omphalocele: A Case Report

被引：9

作者：

Ercoli, Gabriel ^{[1
]}

Paz Bidondo, Maria ^{[1
]}

Cristina Senra, Blanca ^{[2
]}

Groisman, Boris ^{[1
]}

机构：

[1] Natl Minist Hlth, Natl Registry Congenital Anomalies Argentina RENA, Natl Ctr Med Genet, Buenos Aires, DF, Argentina

[2] Hosp Municipal Materno Infantil San Isidro, Buenos Aires, DF, Argentina

来源：

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY | 2014年 / 100卷 / 09期

关键词：

Apert syndrome; omphalocele; acrocephalosyndactyly type 1; MUTATIONS; FGFR2;

D O I：

10.1002/bdra.23270

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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. (C) 2014 Wiley Periodicals, Inc.

引用

页码：726 / 729

页数：4

共 18 条

[1] Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand [J].