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Korean Journal of Obstetrics & Gynecology 2002;45(7):1273-1276.
Published online July 1, 2002.
A Case of Leopard Syndrome Associated with Pure Gonadal Dysgenesis.
Eun Sil Lee, Sang Hyun Ko, Jung Seuk Chi, Min Hur, Hyoung Moo Park
Department of Obstetrics and Gynecology, College of Medicine, Chung-Ang University, Seoul, Korea.
Abstract
Leopard syndrome, a feature of a syndrome, is a acronym of Lentiginosis, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and Deafness. It is one of the autosomal dominant neurocutaneous traits accompanied by neurologic abnormality. We have experienced a case of Leopoard syndrome associated with 46,XX pure gonadal dysgenesis, which was diagnosed by laparoscopic biopsy, karyotyping, and dermatologic consultation. So we report this case with a brief review of literatures. In our knowledge, this very rare case is presented for the first time in Korea.
Key Words: Leopard syndrome, Pure gonadal dysgenesis


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