Oral and dental abnormalities in Barber-Say syndrome

Am J Med Genet A. 2010 Oct;152A(10):2569-73. doi: 10.1002/ajmg.a.32898.


A previously unreported case of Barber-Say syndrome is described with special attention to dental manifestations. A 7-year-old female with multiple congenital anomalies such mammary gland hypoplasia, hypertrichosis, ectropion, and redundant skin was seen at the School of Dentistry of the University of São Paulo. Oral examination revealed macrostomia, broad alveolar ridges, gingival fibromatosis, taurodontism, delayed tooth eruption, and malocclusion. Dental treatment included gingivoplasty and orthodontic treatment.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Dentition
  • Diagnosis, Differential
  • Female
  • Hirsutism / genetics
  • Humans
  • Macrostomia / genetics
  • Male
  • Molar / abnormalities
  • Molar / diagnostic imaging
  • Mouth Abnormalities / genetics*
  • Radiography
  • Syndrome
  • Tooth Abnormalities / genetics*