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A case of McKusick-Kaufman syndrome
Se-Hyung Son, Yoon Joo Kim, Eun Sun Kim, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2011;54(5):219-223.   Published online May 31, 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She...

A Case of McKusick-Kaufman Syndrome
Han Joo Kong, Young Mi Jee, In Kyung Sung, Byung Churl Lee
Clin Exp Pediatr. 1992;35(6):829-833.   Published online June 15, 1992
We experienced a case of Mckusick-Kaufman syndrome in a 14 day-old female neonate. She had hydrometrocolpos with vaginal atresia and polydactyly of feet associated with bilateral hydronephrosis and umbilical hernia. Hydronetrocolpos with vaginal atresia was corrected by abdominoperineal-vaginal pull through operation on 21st day of life. A brief review of related literatures was made.
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