Brun M F, Delcampe P, Retout A, Bachy B, Peron J M
Service de Chirurgie Maxillo-Faciale, C.H.U. Rouen.
Rev Stomatol Chir Maxillofac. 1994;95(5):343-7.
We report the case of a patient with a popliteal pterygium syndrome, a rare malformation associating, in its complete form, cleft lip and cleft palate, cleft lower lip, intergingival synechia, defects of the genito-urinary tract and popliteal pterygium. Based on this observation and a review of the literature, the phenotypic and genotypic aspects of this malformation were discussed together with adapted therapeutic management and genetic counselling.
我们报告了一例患有腘窝翼状胬肉综合征的患者,这是一种罕见的畸形,其完整形式包括唇腭裂、下唇裂、龈间粘连、泌尿生殖道缺陷和腘窝翼状胬肉。基于这一病例观察和文献回顾,我们讨论了这种畸形的表型和基因型方面,以及相应的治疗管理和遗传咨询。