Orhan Veli DOĞAN, Murat GÜNDAY, Ergün HALİLOĞLU, Ali Rıza AKYÜZ

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

Polidaktili ve atrial septal defekt (ASD) birlikteliği çok nadir rastlanan bir anomalidir. Ellis van Creveld sendromu (EVC) ile ilgili temel klinik bulgular %100 olguda ellerde, %10-25 olguda buna ilaveten ayaklarda simetrik postaksiyel polidaktili içeren kas iskelet sistemi bozuklukları, orantısız cücelik, solunum sorunlarına neden olan dar göğüs kafesi, cilt, tırnaklar ve dişlerde ektodermal displazi, yüksek damak, maloklüzyon, mikrognati ve hastaların hemen hemen yarısında (%50-60) özellikle ASD’ler olmak üzere konjenital kalp hastalıklarıdır Bu yazıda, cerrahi tedavi ve sonuçları ile birlikte polidaktili ve primum tip ASD saptanan bir olgu sunuldu.

Polidaktili ve ostium primum tip atriyal septal defekt: Ellis-van Creveld sendromu

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.

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