Three cases of Cornelia de Lange syndrome
Journal of the Korean Pediatric Society
; : 232-238, 1978.
Article
em Ko
| WPRIM
| ID: wpr-96314
Biblioteca responsável:
WPRO
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.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Nariz
/
Aberrações Cromossômicas
/
Síndrome de Cornélia de Lange
/
Diagnóstico
/
Testa
/
Hirsutismo
/
Lábio
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
Ko
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1978
Tipo de documento:
Article