DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20163701

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. 


Keywords


Coffin siris syndrome, Global development delay, Seizures, Generalized hirsutism

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References


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