Multipl pterigium sendromu: Bir olgu sunumu

Özet

Pterigium sendromu, multipl pterigium sendromu, pterygium colli sendromu olarak adlandırılan bu antite; boyunda, antekubital ve popliteal fossada yelelenme (webbing), göğüs deformiteleri, skolyoz (vertebra anomalileri), sindaktili, kamptodaktili, boy kısalığı, minör yüz anomalileri ve yarık damak ile karakterizedir. Genetik geçişi konusunda çeşitli görüşler varsa da otosomal resesif kalıtım şekli kabul görmüştür.

Abstract

This antity which is named as pterygium syndrome, multiple pterygium syndrome or pterygium colli syndrome is characterized with webbing in the neck, popliteal and antecubital fossae, chest deformities, scoliosis (vertebrae anomalies), syndactyly, short stature, minor face anomalies and cleft palate. Although there are various thoughts about its genetic inheritance, it is excepted to be otosomal recessive.In this study, a case which was born of consanguineous parents, diagnosed as multiple pterygium syndrome with unusual facies, webbing of the neck, antecubital fossae and popliteal fossae and chest deformities, cryptochidism is presented because it was given genetic councilling