COFFIN-SIRIS SYNDROME (CASE REPORT)


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Abstract

Coffin-Siris syndrome is a very rare hereditary disease (OMIM, 135900) that was described for the first time by G. Coffin and E. Siris in 1970. Only 50 reports of this condition have thus far been published in the medical literature. The authors report a case of clinically confirmed Coffin-Siris syndrome in a boy aged 3 years and 4 months with the results of ophthalmological, neurological, orthopedic, and cardiological examination as well as the data of the instrumental studies including computed tomography and evaluation of visual evoked potentials. It is argued that Coffin-Siris syndrome involves multiple systemic pathology. The clinical manifestations of the disturbed visual function include megalocornea and partial atrophy of optic nerve confirmed by VEP.

About the authors

Inna Vladimirovna Zol’nikova

Moscow Helmholtz Research Institute of Eye Diseases Ministry of Health of the Russian Federation

Email: innzolnikova@hotmail.com
105062, Moscow, Russian Federation

Marija Imamalievna Subbota

Moscow Helmholtz Research Institute of Eye Diseases Ministry of Health of the Russian Federation

105062, Moscow, Russian Federation

Lejla Jadullaevna Akhadova

Research and Clinical Centre of Pediatric Psychoneurology Moscow Health Ddepafrtment

Moscow, Ruussian Federation

Ol'ga Nikolaevna Rogulina

Moscow Helmholtz Research Institute of Eye Diseases Ministry of Health of the Russian Federation

105062, Moscow, Russian Federation

Irina Viktorovna Egorova

Moscow Helmholtz Research Institute of Eye Diseases Ministry of Health of the Russian Federation

105062, Moscow, Russian Federation

Elena Vasil'evna Rogatina

Moscow Helmholtz Research Institute of Eye Diseases Ministry of Health of the Russian Federation

105062, Moscow, Russian Federation

Svetlana Jur'evna Rogova

Moscow Helmholtz Research Institute of Eye Diseases Ministry of Health of the Russian Federation

105062, Moscow, Russian Federation

Galina Stanislavovna Golosnaya

N. I. Pirogov Russian State Medical University

117997, Moscow, Ruussian Federation

References

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