All issues > Volume 23(6); 1980

Case Report

J Korean Pediatr Soc. 1980;23(6):479-485. Published online June 15, 1980.

Cornelia de Lange Syndrome.

Hwa Jung Yoon, Ai Lan Kim, Whan Kok Yong, Sung Il Ahn

¹Department of Pediatrics, Eul Ji General Hospital Seoul, Korea.

Abstract

The Cornelia de Lange syndrome is characterized by severe growth and mental retardations and a cluster of minor malformations, the facial appearance being most characteristic. In the present paper, we shall report I case of this syndrome in Korean male infant and the variability of de Lange syndrome is discussed. The bady showed hirsutism, low forehead coved with lanugo-like hair, bushy eyebrows that meet in the midline, long curely eyelashes as well as low pitched, growling cry and skeletal abnormalities of hand bones. There is no positive family history and the karyotype was normal. Although the de Lange syndrome has received more interest there is no agreement as to the possible cause.

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