Published online February 1, 2006
PEDIATRICS Vol. 117 No. 3 March 2006, pp. e596-e600 (doi:10.1542/peds.2005-1411)

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EXPERIENCE AND REASON

Prenatal Diagnosis of Familial Type I Choledochal Cyst

Matthew S. Clifton, MD^a, Ruth B. Goldstein, MD^b, Anne Slavotinek, PhD^d, Mary E. Norton, MD^c, Hanmin Lee, MD^a, Jody Farrell, RN, MSN^a and Kerilyn K. Nobuhara, MD^a

^a Surgery
^b Radiology
^c Obstetrics/Gynecology
^d Pediatrics, University of California, San Francisco, California

Familial choledochal cysts are extremely rare. High-resolution ultrasound now allows for the antenatal diagnosis of these anomalies. After delivery, elective surgical resection should be planned; however, increases in size, deterioration of liver function, and ascending cholangitis frequently force early intervention. We report an unusual occurrence of siblings with type I choledochal cysts and review the existing literature on cause, genetics, classification, diagnosis, and management of this disease.

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Key Words: congenital abnormalities • liver disease • prenatal diagnosis

Abbreviations: PBM, pancreaticobiliary maljunction • PKD, polycystic kidney disease

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Accepted Aug 19, 2005.

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