A Korean Case of Cornelia de Lange Syndrome

• 발행기관: 대한안과학회
• 저자명: In Tae Kim Joo Wan Park Woong Chul Choi
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.19 No.2, 153~155쪽, 전체 3쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2005.06.30

영문 초록

Purpose: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. Methods: We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cutaneous fistula and characteristic facial appearance. She was born with low birth weight, operated for cleft palate and diagnosed with ventricular septal defect. In addition, she showed psychological lag and developmental impairment. Results: We performed entropion correction surgery, administered medical therapy for superficial keratitis and prescribed glasses for her myopia. Conclusions: This is the first case report on the successful correction of entropion with Cornelia de Lange syndrome in Korea. Korean Journal of Ophthalmology 19(2):153-155, 2005

목차

Case

References

키워드

Cornelia de Lange syndrome Entropion Keratitis Ptosis