A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature

作者：Stacey Andrew W^*; Sparagna Cristina; Borri Melissa; Rizzo Stanislao; Hadjistilianou Theodora

来源：Journal of AAPOS, 2015, 19(5): 474-478.

DOI：10.1016/j.jaapos.2015.03.023

Cornelia de Lange syndrome (CdLS) can result in multiple congenital abnormalities and numerous ocular findings. We report the case of a 6-year-old boy with history of CdLS who presented with Coats disease. The findings in this case are compared to those found in the two previously reported cases of concomitant CdLS and Coats disease. The low incidence of these two disorders makes it highly unlikely that the connection is random in these 3 cases. The number of patients with both Cornelia de Lange syndrome and Coats disease is likely underestimated due to the difficulty in examining the peripheral retina in this patient population.

• 出版日期2015-10