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


METHODS
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.


CONCLUSIONS
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.
Department of Pediatrics and Neonatology, PGIMER & Associated Dr RML Hospital, New Delhi, India. docdeepakgoyal@yahoo.com.
Deepak
D
Goyal
Dinesh K
DK
Yadav
Umesh
U
Shukla
Sidharth K
SK
Sethi