J Korean Pediatr Soc.  1980 Jun;23(6):479-485.

Cornelia de Lange Syndrome

• Yoon HJ
• Kim AL
• Yong WK
• Ahn SI

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.

MeSH Terms

De Lange Syndrome*
Eyebrows
Eyelashes
Forehead
Hair
Hand Bones
Hirsutism
Humans
Infant
Karyotype
Male