Three cases of Cornelia de Lange syndrome. |
Sang Min Seong, Jun Sung Lee, Dong Bock Lee, Kyung Tai Whang |
Department of Pediatrics, Catholic Medical College, Seoul, Korea. |
Cornelia de Lange 증후군 |
성상민, 이준성, 이동복, 황경태 |
가톨릭의과대학 소아과학교실 |
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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. |
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