All issues > Volume 35(5); 1992

Case Report

J Korean Pediatr Soc. 1992;35(5):684-690. Published online May 15, 1992.

Two Cases of Cornelia de Lange Syndrome

Yoon Jong YJ Yoo¹, Ki Chan KC Na¹, Ho Seong HS Yoo¹, Sang Kee SK Park¹, Yong Bong YB Park¹

¹Department of Pediatrics, Collefge of Medicine, Chosun University, Kwangju, Korea

Abstract

The Cornelia de Lange syndrome is characterized by severe growth and mental retardation, typical face, and low-pitched growling cry. We had experienced two cases of Cornelia de Lange syndrome in korean male infants. The baby showed microbrachycephaly, typical appearance of face with low forehead, bushy eyebrows, long curely eyelashs, thin lip with cleft palate, low set ears, generalized hirsutism and growth retardation as well as low-pitched growling cry and skeletal abnormalities of hand bones. A brief review of literature was made.

Keywords :Cornelia de syndrome