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.

Stacey, A.W., Sparagna, C., Borri, M., Rizzo, S., Hadjistilianou, T. (2015). A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature. JOURNAL OF AAPOS, 19(5), 474-478 [10.1016/j.jaapos.2015.03.023].

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

BORRI, MELISSA;HADJISTILIANOU, THEODORA
2015-01-01

Abstract

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.
Stacey, A.W., Sparagna, C., Borri, M., Rizzo, S., Hadjistilianou, T. (2015). A 6-year-old boy with Cornelia de Lange syndrome and Coats disease: case report and review of the literature. JOURNAL OF AAPOS, 19(5), 474-478 [10.1016/j.jaapos.2015.03.023].
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1005195
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo