title: [Clinical heterogeneity of Townes-Brocks syndrome].
abstract: BACKGROUND
  Townes-Brocks syndrome (TBS) is a rare autosomal dominant entity mainly characterized by ano-rectal, ear and extremities abnormalities with variable clinical expression.
  
  
  METHODS
  The first case had ear and extremities, but not anorectal, abnormalities; a Pierre-Robin sequence with esophageal atresia was also observed. The second case had the classical triad of abnormalities also associated with tetralogy of Fallot which has been only once reported in the literature.
  
  
  CONCLUSIONS
  Both cases are other examples of the frequent clinical variability observed in this syndrome explaining diagnostic difficulties in the absence of a specific marker.
authors.affiliation: Service de pédiatrie et génétique médicale, CHU Morvan, Brest, France.
authors.forename: P
authors.initials: P
authors.lastname: Parent
authors.forename: M
authors.initials: M
authors.lastname: Bensaid
authors.forename: H
authors.initials: H
authors.lastname: Le Guern
authors.forename: A
authors.initials: A
authors.lastname: Colin
authors.forename: L
authors.initials: L
authors.lastname: Broussine
authors.forename: A
authors.initials: A
authors.lastname: Chabarot
authors.forename: A
authors.initials: A
authors.lastname: Cozic
authors.forename: B
authors.initials: B
authors.lastname: Jehannin
authors.forename: L
authors.initials: L
authors.lastname: de Parscau
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001003:Anal Canal / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D004933:Esophageal Atresia / Q000150:complications / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D010855:Pierre Robin Syndrome / Q000150:complications / Q000235:genetics; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000150:complications / Q000235:genetics
vernacular_title: Hétérogénéité clinique du syndrome de Townes-Brocks.