A Case of Goltz Syndrome.
- Author:
Won Rae KIM
;
Hyang Joo KIM
;
Ghee Youn JUNG
;
Jin Gun BANG
;
Du Bong LEE
;
Jung Hee PARK
- Publication Type:Case Report
- MeSH:
Adipose Tissue;
Atrophy;
Biopsy;
Female;
Focal Dermal Hypoplasia*;
Genetic Diseases, Inborn;
Hernia;
Humans;
Infant, Newborn;
Microphthalmos;
Skin;
Syndactyly;
Urinary Tract
- From:Journal of the Korean Pediatric Society
1994;37(7):994-998
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Goltz syndrome is known as a rare mesoectodermal hereditary disease, characterized by focal dermal atrophies with hernias of adipose tissue and also associated with a multitude of possible skeletal, dental, ophthalmological and other abnormalities. We experienced a case of Goltz syndrome. An one day old female newborn had focal atrophic and telangiectatic skin lesions, microphthalmia, syndactyly and urinary tract abnormality. The finding of skin biopsy was consistent with focal dermal hypoplasia. We report the case with a brief review and related literatures.
