Coats' disease in a patient with Cornelia de Lange syndrome

A 16-month-old boy had the mental and physical retardation, low-pitched cry, phocomelia with syndactyly, hirsutism, low-set ears, bushy eyebrows, elongated eyelashes, blepharoptosis, and strabismus characteristic of Cornelia de Lange syndrome along with ophthalmoscopic findings characteristic of Coats' disease. Cryotherapy made the abnormal telangiectatic vessels less prominent, but macular scarring produced poor visual acuity. Occlusion therapy was unsuccessful.