title: Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
abstract: BACKGROUND
  Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2.
  
  
  METHODS
  A one-month-old Moroccan baby boy was diagnosed with typical features of popliteal pterygium syndrome and carried the c.250C>T; p.Arg84Cys mutation of the IRF6 gene.
  
  
  CONCLUSIONS
  We report on the first description of a Moroccan popliteal pterygium syndrome patient. This diagnosis allowed us to provide an appropriate course of management to the patient and offer genetic counseling to his family.
authors.affiliation: Centre de génomique humaine, Faculté de médecine et pharmacie, Université Mohammed V Souissi, Angle Avenue Allal El Fassi et Mfadel Cherkaoui, 10100 Rabat, Morocco. i.ratbi@um5s.net.ma.
authors.forename: Ilham
authors.initials: I
authors.lastname: Ratbi
authors.forename: Nawfal
authors.initials: N
authors.lastname: Fejjal
authors.forename: Marie
authors.initials: M
authors.lastname: Legendre
authors.forename: Nathalie
authors.initials: N
authors.lastname: Collot
authors.forename: Serge
authors.initials: S
authors.lastname: Amselem
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007719:Knee Joint / Q000002:abnormalities*; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis*; D008297:Male; D009018:Morocco; D010808:Physical Examination; D013576:Syndactyly / Q000175:diagnosis*; D014564:Urogenital Abnormalities / Q000175:diagnosis*