A case of the Holt-Oram Syndrome which was Prenatal Diagnosed by Ultrasonography in Affected Mother.

Seo, Eun Jung; Kim, Gwang Jun; Son, Mun Seong; Lee, Eui Don

Case Report

Korean Journal of Obstetrics & Gynecology 2003;46(2):446-449.
Published online February 1, 2003.

A case of the Holt-Oram Syndrome which was Prenatal Diagnosed by Ultrasonography in Affected Mother.

Eun Jung Seo, Gwang Jun Kim, Mun Seong Son, Eui Don Lee

Department of Obstetrics and Gynecology, Gachon Medical School, Gil Hospital, Incheon, Korea.

Abstract

The Holt-Oram syndrome or cardiomelic syndrome is characterized by the association of upper limb and heart malformations. Most frequently, abnormalities of the thumb and secundum atrial septal defects are associated with the disease. The mode of inheritance is autosomal dominant. The etiology of this disease is unknown but is most likely of multifactorial origin. Here we report a case Holt-Oram syndrome with affected mother which was diagnosed at 18th gestational weeks by prenatal ultrasonograpy. Fetal ultrasonography revealed abnormalities of upper limbs, and heart. The upper limbs were shorter than normal, syndactyly of both hands were seen and both wrists were markedly angulated. Ventricular septal defect was suspicious. After genetic counselling her pregnancy was terminated at 22nd gestational week.

Key Words: Holt-Oram syndrome, Prenatal ultrasonography, Affected mother