A Korean case of Cornelia de Lange syndrome.

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.