Polydactyly and ostium primum type atrial septal defect: Ellis-van Creveld syndrome

被引：3

作者：

Dogan, Orhan Veli ^{[1
]}

Gunday, Murat ^{[1
]}

Haliloglu, Ergun ^{[1
]}

Akyuz, All Riza ^{[2
]}

机构：

[1] Baskent Univ, Konya Uygulama Arastirma Merkezi, Kalp Damar Cerrahisi Kli, TR-42080 Konya, Turkey

[2] Ani Evren Thorac & Cardiovasc Surg Hosp, Dept Cardiol, Trabzon, Turkey

来源：

TURK GOGUS KALP DAMAR CERRAHISI DERGISI-TURKISH JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY | 2012年 / 20卷 / 03期

关键词：

Ellis-van Creveld syndrome; polydactyly; primum atrial septal defect; ELLISVANCREVELD SYNDROME; GENE;

D O I：

10.5606/tgkdc.dergisi.2012.119

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

Comorbid polydactyly and atrial septal defect (ASD) is a very rarely seen anomaly. Basic clinical findings of Ellis-van Creveld syndrome include muscular skeletal disorders in the hands in 100% of cases, additional symmetrical postaxial polydactyly in the feet in 10-25% of cases, disproportionate dwarfism, a narrow thorax leading to respiratory problems, ectodermic dysplasia in the skin, nails, and teeth, a high palate, malocclusion, micrognathia, and congenital heart diseases, especially ASDs, in almost half of the patients (50-60%). In this article, we report a case with polydactyly and primum type ASD along with the surgical treatment and outcomes.

引用

页码：619 / 621

页数：3

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