A Case of the Holt-Oram Syndrome with Unaffected Parents Diagnosed by Antenatal Ultrasonography.

Lee, Jung Gun; Choi, An Na; Jee, Eun Gyung; Gwon, Tae Hee; Lee, Yong Hee; Lee, Sook Hwan; Jo, Joo Yeon; Jung, Chang Jo; Gye, Jung Woong; Lee, Jung No

Case Report

Korean Journal of Obstetrics & Gynecology 2000;43(11):2095-2099.
Published online January 1, 2001.

A Case of the Holt-Oram Syndrome with Unaffected Parents Diagnosed by Antenatal Ultrasonography.

Jung Gun Lee, An Na Choi, Eun Gyung Jee, Tae Hee Gwon, Yong Hee Lee, Sook Hwan Lee, Joo Yeon Jo, Chang Jo Jung, Jung Woong Gye, Jung No Lee

Abstract

Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius: the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.

Key Words: Holt-Oram Syndrome, Unaffected parents, Antenatal ultrasonography