Cornelia De Lange Syndrome-A Case Report

Abstract

Purpose: To report a rare case of Cornelia de Lange syndrome. Method: A case report with literature review. Results: A 5-month-old boy was admitted to the pediatric ward due to failure to thrive. Clinical manifestations included intrauterine growth retardation (birth body weight was 1900 grams), prematurity (gestational age was 35+3 weeks), small for gestational age (4141 grams, less than third percentile), choked easily, small hands and feet, short neck, hirsutism and cryptorchidism. Facial features with confluent eyebrow, thin lips, low anterior and posterior hairline, down-turned mouth angle, low-set ears and micrognathia were noted. Auditory brainstem response showed slight hearing impairment. Ophthalmologic examination revealed long curly eyelashes, bushy eyebrows and synophrys. No ptosis, strabismus, nystagmus or other ocular abnormalities were found. The diagnosis was based on typical and unique clinical features of Cornelia de Lange syndrome (CdLS). Conclusion: Cornelia de Lange syndrome is a syndrome of multiple congenital anomalies characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties and malformations that mainly involve the upper extremities. We present such a rare case with typical manifestations.