Two Cases of Cornelia de Lange Syndrome |
Yoon Jong Yoo, Ki Chan Na, Ho Seong Yoo, Sang Kee Park, Yong Bong Park |
Department of Pediatrics, Collefge of Medicine, Chosun University, Kwangju, Korea |
Cornelia de Lange 증후군 2례 |
유윤종, 나기찬, 유호성, 박상기, 박영봉 |
조선대학교 의과대학 소아과학교실 |
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Abstract |
The Cornelia de Lange syndrome is characterized by severe growth and mental retardation, typical face, and low-pitched growling cry.
We had experienced two cases of Cornelia de Lange syndrome in korean male infants.
The baby showed microbrachycephaly, typical appearance of face with low forehead, bushy eyebrows, long curely eyelashs, thin lip with cleft palate, low set ears, generalized hirsutism and growth retardation as well as low-pitched growling cry and skeletal abnormalities of hand bones.
A brief review of literature was made. |
Key Words:
Cornelia de syndrome |
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