Abstract
Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. Most common and consistent ophthalmic features reported are nasolacrimal duct obstruction, long and curly eyelashes, blepharitis, ptosis, synophrys, telecanthus, hypertelorism, microcornea, peripapillary pigment ring, and myopia. In this report we report a case of a 5-year old boy who presented to our institution with complaint of blurring of vision in the right eye since birth. A diagnosis of Cornelia de Lange syndrome was arrived at based on the characteristic external and ophthalmic examination. He was found to have a rare association of optic nerve head coloboma in the right eye and a novel finding of an optic disk pit in the left eye. The association of optic disk pit with CdLS has never been reported earlier. We aim to provide a thorough review of literature of this not so uncommon syndrome.
Keywords
Subject
Publication details
- DOI
- 10.4103/0974-620x.137149
- Journal
- Oman Journal of Ophthalmology, 7(2), 69-71
- Publisher
- Medknow Publications
- Open access
- Gold open access
Cite this article
APA 7
Shenoy, B. H., Gupta, A., Sachdeva, V., & Kekunnaya, R. (2014). Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature. Oman Journal of Ophthalmology, 7(2), 69-71. https://doi.org/10.4103/0974-620x.137149
MLA 9
Shenoy, Bhamy Hariprasad, et al. "Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature." Oman Journal of Ophthalmology, vol. 7, no. 2, 2014, pp. 69-71. https://doi.org/10.4103/0974-620x.137149.
Chicago (author–date)
Shenoy, Bhamy Hariprasad, Amit Gupta, Virender Sachdeva, and Ramesh Kekunnaya. 2014. "Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature." Oman Journal of Ophthalmology 7 (2): 69-71. https://doi.org/10.4103/0974-620x.137149.
Harvard
Shenoy, B. H., Gupta, A., Sachdeva, V. and Kekunnaya, R. (2014) 'Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature', Oman Journal of Ophthalmology, 7(2), pp. 69-71. doi:10.4103/0974-620x.137149.
Vancouver
Shenoy BH, Gupta A, Sachdeva V, Kekunnaya R. Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature. Oman Journal of Ophthalmology. 2014;7(2):69-71. doi:10.4103/0974-620x.137149
IEEE
B. H. Shenoy, A. Gupta, V. Sachdeva, and R. Kekunnaya, "Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature," Oman Journal of Ophthalmology, vol. 7, no. 2, pp. 69-71, 2014, doi: 10.4103/0974-620x.137149.