Coffin siris syndrome: a rare clinical entity

Rupali Jain; Sandip Gediya; Amzad Khan; Suresh Goyal; Lakhan Poswal

doi:10.18203/2349-3291.ijcp20163701

Authors

Rupali Jain Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan
Sandip Gediya Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan
Amzad Khan Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan
Suresh Goyal Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan
Lakhan Poswal Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan

DOI:

https://doi.org/10.18203/2349-3291.ijcp20163701

Keywords:

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

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 5^th finger/nail hypoplasia. The child had distinctive features of CSS like developmental delay, seizures, and coarse facial features, body hypertrichosis, scalp hypotrichosis and SNHL.

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References

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Coffin Siris Syndrome. Available at https://rarediseases.org/rare-diseases/coffin-siris-syndrome/. Accessed on 12 May 2016.