THE GORLIN-GOLTZ SYNDROME - CASE-REPORT

被引：13
|
作者：
MANZI, G [1 ]
MAGLI, A [1 ]
PIGNALOSA, B [1 ]
LIGUORI, G [1 ]
机构：
[1] SCH MED NAPLES 2,EYE CLIN,NAPLES,ITALY
来源：
OPHTHALMOLOGICA | 1990年 / 200卷 / 02期
关键词：
Fibroblast growth; Focal dermal hypoplasia; Phakomatosis;
D O I：
10.1159/000310086
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
Focal dermal hypoplasia is a syndrome characterized by anomalies of cutaneous, osseous, dental and ocular structures. Because of the ocular anomalies, this syndrome should be regarded as a fifth type of phakomatosis. The differences between the fibroblasts obtained from skin lesions and fibroblasts obtained from normal skin and controls could be the demonstration of mosaicism and the consequence of lyonization. The authors present the case of a baby with typical anomalies of the Gorlin-Goltz syndrome and abnormal growth characteristics of skin fibroblasts. © 1990 S. Karger AG, Basel.
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页码：104 / &
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