Korean J Obstet Gynecol.  2002 Jul;45(7):1273-1276.

A Case of Leopard Syndrome Associated with Pure Gonadal Dysgenesis

• Lee ES
• Ko SH
• Chi JS
• Hur M
• Park HM

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.

Keyword

Leopard syndrome; Pure gonadal dysgenesis

MeSH Terms

Biopsy
Deafness
Electrocardiography
Genitalia
Gonadal Dysgenesis*
Gonads*
Hypertelorism
Karyotyping
Korea
Lentigo
LEOPARD Syndrome*
Panthera*
Pulmonary Valve Stenosis