All issues > Volume 33(2); 1990

Original Article

J Korean Pediatr Soc. 1990;33(2):234-240. Published online February 28, 1990.

A Case of Cornelia de Lange syndrome.

Byoung Hong Ahn¹, Song Nyeon Choi¹, Young Wook Kim¹, Ki Bok Kim¹

¹Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea

Received: June 22, 1989;  Accepted: September 19, 1989.

Abstract

We have experienced a case of Cornelia de Lange syndrome in a 3-year-old boy. The patient showed most of the typical clinical features of the syndrome: microcephaly, bushy eyebrows and synophys, antimongolian slant, small nose and anteverted nostrils, thin protruding lips with downturning of the comer, micrognathia, low set ears, generalized hirsuitism, and growth redardation. The patient also had skeletal abnormalities of hands. Chromosomal analysis revealed abnormal- ities in chromosome 3(46, XY, 3q2, trisomy).

Keywords :Cornelia de Lange syndrome