A Case of Leopard Syndrome Associated with Pure Gonadal Dysgenesis.
- Author:
Eun Sil LEE
1
;
Sang Hyun KO
;
Jung Seuk CHI
;
Min HUR
;
Hyoung Moo PARK
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine, Chung-Ang University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Leopard syndrome;
Pure gonadal dysgenesis
- MeSH:
Biopsy;
Deafness;
Electrocardiography;
Genitalia;
Gonadal Dysgenesis*;
Gonads*;
Hypertelorism;
Karyotyping;
Korea;
Lentigo;
LEOPARD Syndrome*;
Panthera*;
Pulmonary Valve Stenosis
- From:Korean Journal of Obstetrics and Gynecology
2002;45(7):1273-1276
- CountryRepublic of Korea
- Language:Korean
-
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.
