Korean J Ophthalmol.  2005 Jun;19(2):153-155. 10.3341/kjo.2005.19.2.153.

A Korean Case of Cornelia de Lange Syndrome

• Kim IT
• Park JW
• Choi WC

• KMID: 754416
• DOI: http://doi.org/10.3341/kjo.2005.19.2.153

Abstract

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.

Keyword

Cornelia de Lange syndrome; Entropion; Keratitis; Ptosis

MeSH Terms

Adolescent
*Asian Continental Ancestry Group
Blepharoptosis/*complications
De Lange Syndrome/*complications/*ethnology
Entropion/*complications/surgery
Eyeglasses
Female
Humans
Keratitis/*complications/drug therapy
Myopia/*complications/therapy

Figure

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  Fig. 1 A photograph showing ptosis, long curly eyelashes, eyebrow hypertrichosis, and synophrys.

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  Fig. 2 photograph showing cutaneous lacrimal fistula.

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  Fig. 3 A typical face with anteverted nostrils, downturned protruded mouth, and thin lower lip

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  Fig. 4 A hand with micromelia and crooked fingers.

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