New cases of Bohring-Opitz syndrome, update, and critical review of the literature

Am J Med Genet A. 2006 Jun 15;140(12):1257-63. doi: 10.1002/ajmg.a.31265.


We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, and severe failure to thrive. We also update the clinical outcome of the patients reported in the original article by Bohring et al. [Am J Med Genet 85:438-446] and critically review the subsequently published cases considered to have Bohring-Opitz syndrome.

Publication types

  • Case Reports
  • Comment
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Cleft Lip / genetics
  • Cleft Lip / pathology
  • Cleft Palate / genetics
  • Cleft Palate / pathology
  • Craniofacial Abnormalities / pathology
  • Exophthalmos / genetics
  • Exophthalmos / pathology
  • Fatal Outcome
  • Female
  • Forehead / abnormalities
  • Humans
  • Hypertelorism / genetics
  • Hypertelorism / pathology
  • Infant
  • Infant, Newborn
  • Male
  • Syndrome