A CASE OF ELLIS-VAN SYNDROME WITH THIMIC HYPOPLASIA ANT ITS  SURGICAL REPAIRE (CASE REPORT)

A CASE OF ELLIS-VAN SYNDROME WITH THIMIC HYPOPLASIA ANT ITS SURGICAL REPAIRE (CASE REPORT)

Hacı AKAR, M. Kemal DEMİRAĞ, H. Tahsin KEÇELİGİL, *Kemal BAYSAL

Ondokuz Mayıs Üniversitesi Tıp Fakültesi, Kalp ve Damar Cerrahisi Anabilim Dalı
^*Ondokuz Mayıs Üniversitesi Tıp Fakültesi, Pediatrik Kardiyoloji Anabilim Dalı

Ellis-van Creveld syndrome (EvC), also called chondroectodermal dysplasia, is a rare occurrence inherited as an autosomal recessive disease and characterized by chondrodysplasia, ectodermal dysplasia, polydactyly and congenital cardiac defects. As congenital cardiac defects, single atrium and endocardial cushion defects are frequent.

In our clinic, a 16 months old girl presenting the classical findings of EvC syndrome, was operated succesfully. Mitral clefts were repaired by direct suturing, single atrium was repaired by creating a new septum with a pericardial patch and coronary sinüs was left in the left atrium. During the peroperatuar exploration, thimic hypoplasia was recognized. We couldnt find any other cases of EvC syndrome with thimic hypoplasia in the literature.

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