Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome

Ali, Tuncer Ahmet; Karavelioğlu, Afra; Embleton, Didem Baskın; Elmas, Muhsin

doi:10.4103/0971-9261.186552

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2021

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“…Holt-Oram sendromunda multisistem anomalileride görülebilmekte fakat oldukça enderdir. Ülkemizden yapılan bir çalışmada, ürogenital anomaliler ve duodenal atrezi ile ilişkili olgular bildirilmiştir (7) . (9) .…”

Section: Discussionunclassified

A Case with Holt-Oram Syndrome

Demircan¹,

Kızılca²,

Yılmaz³

et al. 2021

TERH

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Holt-Oram syndrome is an autosomal domiant-associated syndrome characterized by upper extremity anomalies and congenital heart diseases. Of the congenital heart defects, atrial septal defect (ASD) is most frequently accompanied. A five-year-old girl; When she was 2 years old, she was diagnosed with Holt-Oram syndrome because of her ASD, her thumb with triphalanx, and her father with ASD and hand anomalies. Transcatheter closure of ASD was planned in the first plan, but it was decided by transesophageal echocardiography that the rims were inappropriate, and ASD was closed surgically. This article is presented with the aim of remembering that congenital heart defects may accompany patients with upper extremity anomaly and to think of Holt-Oram syndrome which is a rare syndrome.

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Section: Discussionunclassified