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.
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

PURPOSE: To investigate the surgical results of an ear cartilage graft and supplemental procedures for correcting lower lid retraction combined with entropion in anophthalmic patients. METHODS: We reviewed retrospectively the medical records of 7 anophthalmic patients with lower lid retraction and entropion, who received a posterior lamellar ear cartilage graft and one or both of lateral tarsal strip or eyelash-everting procedure between March 1998 and March 2003. Preoperative and postoperative lid and socket statuses were also investigated. RESULTS: Ear cartilage grafts were performed in all 7 patients, lateral tarsal strips in 6, and eyelash-everting procedures in 5. Postoperative follow-up durations ranged from 4 to 28 months (average 12.6 months). Retractions were corrected during follow-up in all patients. There were no cases of entropion immediately after surgery. However, the eyelashes of the lower lid returned to an upright position in 4 patients, but not so severe as to touch the ocular prosthesis, and thus did not require surgical correction during follow up. CONCLUSIONS: Lower lid retraction combined with entropion in anophthalmic patients can be corrected effectively using an ear cartilage graft with selective, supplemental procedures.
Retrospective Studies ; Male ; Humans ; Female ; Eyelid Diseases/*etiology/*surgery ; Entropion/*etiology/*surgery ; Ear Cartilages/*transplantation ; Child, Preschool ; Child ; Anophthalmos/*complications ; Adult