PDF(Pubmed)
Abstract：
Goltz-Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog-Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz-Gorlin syndrome.
摘要：
Goltz-Gorlin综合征是一种与PORCN（豪猪同源果蝇）基因突变相关的罕见X连锁遗传性疾病。它主要影响皮肤及其附属物。特征性皮肤特征包括Blaschko线性图案，皮肤萎缩,色素变化,和毛细血管扩张.已在一半以上的受影响个体中报告了口腔表现。最常见的口腔表现包括牙釉质发育不全，缺省症,多余的牙齿，microdontia,牙齿的垂直开槽，牛磺酸症,聚变,零星病例中报告的根形态异常。本病例报告的目的是描述患有Goltz-Gorlin综合征的中年儿童女孩的牙面特征。
