Publication:

Coffin siris syndrome: a rare clinical entity

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.