UNASSIGNED: We report on a currently 11-year-old female patient with a novel missense heterozygous PORCN variant who exhibited classical ectodermal, skeletal, and ocular findings in addition to mild intellectual disability, left-side diaphragm eventration, and puberty precox, a finding yet unreported in the literature.
UNASSIGNED: With this report, we aimed to expand the mutational spectrum and give insight into the importance of neurologic and skeletal system evaluation among other clinical features of FDH. Although gastrointestinal and genitourinary problems can occur during the course of the disease, to our knowledge, left-side diaphragm eventration and puberty precox are new features that have not been reported previously.
■我们报道了一名目前为11岁的女性患者,患有一种新型错义杂合PORCN变体,表现出经典的外胚层,骨骼,除了轻度的智力残疾,左侧膈肌外移,和青春期前考克斯,在文献中尚未报道的发现。
■有了这份报告,我们旨在扩大突变谱,并深入了解神经和骨骼系统评估在FDH其他临床特征中的重要性.尽管在疾病过程中可能会出现胃肠道和泌尿生殖系统问题,根据我们的知识,左侧膈肌膨出和青春期前是以前没有报道的新特征。