title: Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark.
abstract: OBJECTIVE
  The prenatal ultrasound visualization of the soft palate and especially the uvula may be technically difficult due to its anatomy and presence of surrounding structures. A cleft involving the soft palate and the uvula is one of the clinical features of Stickler syndrome, a rare connective tissue disorder.
  
  
  METHODS
  Third trimester scan performed at 30 weeks' gestation in a pregnant woman with a familial history of Stickler syndrome using conventional 2D ultrasound.
  
  
  RESULTS
  Transabdominal scan performed with the fetal head in oblique plane and following fetal swallowing movements enabled a previously unrecognized median cleft at the level of the uvula. Molecular biology analysis allowed a precise prenatal diagnosis of Stickler syndrome and excluded overlapping syndrome.
  
  
  CONCLUSIONS
  The prenatal ultrasound diagnosis was achieved time before the "equals signs" was proposed as a useful sonographic marker of a normal uvula. The identification of a bifid uvula by conventional 2D ultrasound led to a prenatal diagnosis of Stickler syndrome in this affected Family and allowed the neonatologist team to be available at the time of birth. Moreover, postnatal multispecialist follow up could be timely planned for targeted organ examination and appropriate management.
authors.forename: Mario
authors.initials: M
authors.lastname: Lituania
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
mesh_terms: D000328:Adult; D001168:Arthritis; D003095:Collagen Diseases / Q000000981:diagnostic imaging; D003240:Connective Tissue Diseases; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006319:Hearing Loss, Sensorineural; D006801:Humans; D011247:Pregnancy; D012163:Retinal Detachment; D016216:Ultrasonography, Prenatal; D014609:Uvula / Q000000981:diagnostic imaging*