Monday 24 July 2017

A rare case of Cornelia de Lange syndrome with Glaucoma


glaucoma journal articles
An eight months old baby was presented with no tolerance to bright light, chronic watering and discharge from both eyes since birth. There was no family history or consanguinity. The child presented strange facial features of microcephaly, synophrys, smooth philtrum, thin upper lip and hirsutism. Close examination of the eyes presented myopic astigmatism and abnormal intraocular pressure. The child underwent trabeculotomy and the case was diagnosed Cornelia de Lange syndrome. It is a multiple congenital anomaly syndrome with intrauterine growth retardation, developmental delay, mental retardation, distinctive facial features, respiratory and feeding difficulties, gastroesophageal dysfunction, and cardiac septal defects. Cornelia de Lange syndrome occurs due to the mutation of at least five genes. However, Cornelia de Lange syndrome with congenital glaucoma is a very rare case.

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