A Missed Case of Currarino Syndrome

Currarino syndrome is a rare autosomal dominant disorder. Mutations in the human homeobox gene, HLXB9, have been associated with this disorder. Affected individuals are at risk for serious complications leading to significant morbidity and mortality. All families of index patients should be offered genetic counseling. Recognition of at-risk individuals should lead to better planning of pregnancies and appropriate management of affected infants at birth. Prompt diagnosis and surgery can help minimize the morbidity.

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