A Case of Leopard Syndrome Associated with Pure Gonadal Dysgenesis / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 1273-1276, 2002.
Article
in Korean
| WPRIM
| ID: wpr-188136
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pulmonary Valve Stenosis
/
Biopsy
/
Deafness
/
LEOPARD Syndrome
/
Panthera
/
Electrocardiography
/
Genitalia
/
Gonadal Dysgenesis
/
Gonads
/
Hypertelorism
Country/Region as subject:
Asia
Language:
Korean
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
2002
Type:
Article
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