Dias Cristina, Basto Jorge, Pinho Odilia, Barbêdo Carla, Mártins Marcia, Bornholdt Dorothea, Fortuna Ana, Grzeschik Karl-Heinz, Lima Margarida
Centro de Genética Médica Dr Jacito Magalhaes -INSA, Genética Médica, Porto, Portugal.
Fetal Pediatr Pathol. 2010;29(5):305-13. doi: 10.3109/15513811003796912.
Focal dermal hypoplasia (FDH, Goltz syndrome), is an X-linked dominant mesoectodermal developmental disorder, involving skin, skeleton, eyes, teeth, and other organs. Mutations in PORCN, which stimulates the secretion of wingless family signal proteins, are found in FDH patients. A female fetus presented at 34 weeks gestation with interuterine growth restriction (IUGR), asymmetry, limb anomalies, microphthalmia, and lung anomaly. Focal dermal hypoplasia was confirmed at birth, with hypoplastic areas of skin, malformation of the limbs, diaphragmatic hernia, and ocular anomalies. Mutation analysis of PORCN revealed a nonsense mutation-Y359X. She presented natal teeth, an unexpected feature considering the role of the Wnt pathway in tooth development.
局灶性皮肤发育不全（FDH，戈尔茨综合征）是一种X连锁显性中胚层外胚层发育障碍，累及皮肤、骨骼、眼睛、牙齿和其他器官。在FDH患者中发现了PORCN基因突变，该基因刺激无翅家族信号蛋白的分泌。一名女性胎儿在妊娠34周时出现宫内生长受限（IUGR）、不对称、肢体异常、小眼畸形和肺部异常。出生时确诊为局灶性皮肤发育不全，有皮肤发育不全区域、肢体畸形、膈疝和眼部异常。PORCN突变分析显示一个无义突变——Y359X。她出生时就有牙齿，考虑到Wnt信号通路在牙齿发育中的作用，这是一个意外特征。
