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Coffin siris syndrome: a rare clinical entity

Rupali Jain, Sandip Gediya, Amzad Khan, Suresh Goyal, Lakhan Poswal.

Abstract
Coffin-siris syndrome (CSS) is a rare, clinically heterogeneous disorder considered in the setting of prenatal onset of mild to moderate growth deficiency, facial dysmorphism, cognitive/developmental delay, and speech impairment, moderate to severe hypotonia, seizures and 5th finger/nail hypoplasia. The child had distinctive features of CSS like developmental delay, seizures, and coarse facial features, body hypertrichosis, scalp hypotrichosis and SNHL.

Key words: Coffin siris syndrome, Global development delay, Seizures, Generalized hirsutism



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