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Journal of the Korean Pediatric Society 1994;37(7):994-998.
Published online July 15, 1994.
A Case of Goltz Syndrome
Won Rae Kim1, Hyang Joo Kim1, Ghee Young Jung1, Jin Gun Bang1, Du Bong Lee1, Jung Hee Park2
1Department of Pediatrics, St. Francisco General Hospital, Seoul, Korea
2Department of Anatomic Pathology, St. Francisco General Hospital, Seoul, Korea
Goltz Syndrome 1례
김원래1, 김향주1, 정귀영1, 방진건1, 이두봉1, 박정희2
1방지거 병원 소아과
2방지거 병원 해부병리과
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.
Key Words: Goltz syndrome, Focal dermal hypoplsia


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