HOLT-ORAM SYNDROME (Heart-Hand Syndrome): Case Report

Ömer Çakır, Mehmet Nesimi Eren, *Cumhur Kesemenli

Dicle Üniversitesi Tıp Fakültesi, Göğüs Kalp Damar Cerrahisi Ana Bilim Dalı, Diyarbakır
*Dicle Üniversitesi Tıp Fakültesi, Ortopedi ve Travmatoloji Ana Bilim Dalı, Diyarbakır

Holt-Oram Syndrome is a hereditary disease transmitted by autosomal dominant inheritance characterized by skeletal dysplasia of upper extremities and congenital cardiac defects. Our case was a 10-year-old male patient with absence of first finger, simple incomplete syndactiliy in second and third fingers in both hands and congenital kyphoscoliosis of thoracal region. Type C radius aplasia was found in the X-ray films of both forearms and absence of first ray, kyphoscoliosis was identified in thoracal radiographs. There was a wide atrial septal defect in echocardiography which further was closed by cardiopulmonary bypass with pericardial patch. We find it interesting to present this case since there is no reported Holt-Oram Syndrome associated with severe kyphoscoliosis in the literature.

Keywords : Holt-Oram syndrome, Congenital heart defect, kyphoscoliosis

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