Coffin siris syndrome: a rare clinical entity

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 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. 

References

Schrier SA, Bodurtha JN, Burton B. The coffin-siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet. 2012;158:1865-76.

Jones KL, Jones MC, Campo MD. Coffin siris syndrome. Smith’s recognizable patterns of human malformation. 7th edition. Elsevier Publication. 2013:752-753.

World health organization, Guidelines on growth monitoring from birth to 18years. Available at http://www.who.int/nut-growthdb/en. Accessed on 12 May 2016.

Bodurtha J, Kessel A, Berman W. Distinctive gastrointestinal anomaly associated with coffin-siris syndrome. J Pediatr. 1986;109:1015-7.

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

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Published

2016-12-22