title: [Popliteal pterygium syndrome. A exceptional case].
abstract: 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.
authors.affiliation: Service de Chirurgie Maxillo-Faciale, C.H.U. Rouen.
authors.forename: M F
authors.initials: MF
authors.lastname: Brun
authors.forename: P
authors.initials: P
authors.lastname: Delcampe
authors.forename: A
authors.initials: A
authors.lastname: Retout
authors.forename: B
authors.initials: B
authors.lastname: Bachy
authors.forename: J M
authors.initials: JM
authors.lastname: Peron
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology*; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology*; D002987:Clitoris / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D005882:Gingival Diseases / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007717:Knee / Q000002:abnormalities*; D008046:Lip / Q000002:abnormalities*; D009264:Nails, Malformed; D012868:Skin Abnormalities; D013577:Syndrome; D000267:Tissue Adhesions / Q000235:genetics / Q000473:pathology; D014034:Toes / Q000002:abnormalities; D014844:Vulva / Q000002:abnormalities
vernacular_title: Syndrome des ptérygium poplités. Une observation privilégiée.