J Korean Pediatr Soc.  1978 Mar;21(3):232-238.

Three cases of Cornelia de Lange syndrome

• Seong SM
• Lee JS
• Lee DB
• Whang KT

Abstract

We have experienced 3 cases of Cornelia de Lange syndrome in Korean female infants. They showed typical clinical features of a microbrachycephaly, hirsutism and characteristic face with low forehead bushy eye brows, antimongolian slant, large and depressed briedge of nose, thin protruding lips with down turning of the corners and micrognathia. They also had skeletal abnormalities and chromosomal abnormalities. The diagnosis was established by clinical, laboratory and X-ray findings. The brief review of literature was made.

MeSH Terms

Chromosome Aberrations
De Lange Syndrome*
Diagnosis
Female
Forehead
Hirsutism
Humans
Infant
Lip
Nose