Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

Abstract

INTRODUCTION:

We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature.

CASE PRESENTATION:

A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal.

CONCLUSION:

In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

• Authors: Deepak Goyal, Dinesh K Yadav, Umesh Shukla, Sidharth K Sethi
• Journal: Journal of medical case reports (J Med Case Rep) Vol. 4 Pg. 354 (Nov 08 2010) ISSN: 1752-1947 [Electronic] England
• PMID: 21059198 (Publication Type: Journal Article)