title: Anatomic Severity, Midfacial Growth, and Speech Outcomes in Van der Woude/Popliteal Pterygium Syndromes Compared to Nonsyndromic Cleft Lip/Palate.
abstract: To summarize the clinical characteristics and surgical and speech outcomes for patients with Van der Woude/popliteal pterygium syndromes (VWS/PPS) and to compare them with a historic cohort of patients with nonsyndromic cleft lip/cleft palate (CL/P).
  
  
  
  Retrospective chart review.
  
  
  
  Tertiary care center.
  
  
  
  All patients with VWS/PPS seen at Boston Children's Hospital from 1979 to 2012: 28 patients with VWS (n = 21)/PPS (n = 7) whose mean age was 17.3 ± 10.4 years, including 18 females (64%) and 10 males (36%); 18 patients (64%) had a family history of VWS/PPS.
  
  
  
  Cleft type, operative procedures, speech, and midfacial growth. Data were compared with historic cohorts of patients with nonsyndromic CL/P treated at one tertiary care center.
  
  
  
  There were 24 patients (86%) with CP±L, Veau types I (n = 4, 17%), II (n = 4, 17%), III (n = 5, 21%), and IV (n = 11, 46%). Nine patients (38%) had palatal fistula after palatoplasty. Fourteen of 23 (61%) patients with CL/P age 5 years or older had midfacial retrusion, and 10 (43%) required a pharyngeal flap for velopharyngeal insufficiency. Fisher's exact test demonstrated higher frequencies of Veau type IV CP±L (P = .0016), bilateral CL±P (P = .0001), and complete CL±P (P < .0001) in VWS/PPS compared with nonsyndromic patients. Incidences of midfacial retrusion (P = .0001), palatal fistula (P < .0001), and need for pharyngeal flap (P = .0014) were significantly greater in patients with VWS/PPS.
  
  
  
  Patients with VWS/PPS have more severe forms of labiopalatal clefting and higher incidences of midfacial retrusion, palatal fistula, and velopharyngeal insufficiency following primary repair as compared with nonsyndromic CL/P.
authors.forename: Jeffrey B
authors.initials: JB
authors.lastname: Reardon
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Brustowicz
authors.forename: Eileen M
authors.initials: EM
authors.lastname: Marrinan
authors.forename: John B
authors.initials: JB
authors.lastname: Mulliken
authors.forename: Bonnie L
authors.initials: BL
authors.lastname: Padwa
mesh_terms: D000015:Abnormalities, Multiple / Q000601:surgery*; D000293:Adolescent; D002971:Cleft Lip / Q000601:surgery*; D002972:Cleft Palate / Q000601:surgery*; D003560:Cysts / Q000601:surgery*; D005124:Eye Abnormalities / Q000601:surgery*; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000601:surgery; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities* / Q000601:surgery; D008046:Lip / Q000002:abnormalities* / Q000601:surgery; D038061:Lower Extremity Deformities, Congenital / Q000601:surgery*; D008297:Male; D008445:Maxillofacial Development; D012189:Retrospective Studies; D013065:Speech Intelligibility; D013524:Surgical Flaps; D013576:Syndactyly / Q000601:surgery*; D016896:Treatment Outcome; D014564:Urogenital Abnormalities / Q000601:surgery*; D014681:Velopharyngeal Insufficiency / Q000503:physiopathology*
keywords: Van der Woude syndrome; cleft lip/palate; popliteal pterygium syndrome