title: [Branchio-oculo-facial syndrome].
abstract: BACKGROUND
  Branchio-Oculo-Facial Syndrome (BOFS, MIM#113620) is a rare, polymalformational disorder with cutaneous and ocular abnormalities and characteristic facial anomalies. It is an autosomal dominant developmental disorder caused by mutations or deletions in the transcription factor AP-2 alpha gene (TFAP2A, 6p24). We report a new case of atypical BOFS with a unilateral cervical cutaneous defect.
  
  
  METHODS
  A 5-year-old girl was admitted to our dermatology department for a congenital, linear, erythematous cutaneous anomaly on the right side of her neck. There was no family history. She also presented characteristic facial and ocular anomalies. BOFS was suspected. TFAP2A molecular analysis revealed a heterozygous missense mutation c.767C>T (p.Ala256Val).
  
  
  CONCLUSIONS
  BOFS is variable and remains unknown to dermatologists in spite of distinctive cutaneous features. Identification of this syndrome is important to improving medical care (multidisciplinary care, further tests, genetic counselling). We report a case of atypical BOFS with a unilateral cervical cutaneous defect in one patient and bilateral cutaneous anomalies in the other four patients. In agreement with the literature, there did not appear to be mutation-specific genotype-phenotype correlations.
authors.affiliation: Service de dermatologie, centre de référence des maladies rares de la peau, université Paul-Sabatier, hôpital Larrey, CHU de Toulouse, 24, chemin de Pouvourville, TSA 30030, 31059 Toulouse cedex 9, France. frascari.flora@gmail.com
authors.forename: F
authors.initials: F
authors.lastname: Frascari
authors.forename: E
authors.initials: E
authors.lastname: Bieth
authors.forename: P
authors.initials: P
authors.lastname: Galinier
authors.forename: W
authors.initials: W
authors.lastname: Just
authors.forename: J
authors.initials: J
authors.lastname: Mazereeuw-Hautier
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis; D002675:Child, Preschool; D005260:Female; D006801:Humans; D010641:Phenotype