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

Axel Bohring, Grétel G. Oudesluijs, Dorothy K. Grange, Giuseppe Zampino, Patrick Thierry

Research output: Contribution to journalReview articlepeer-review

19 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)1257-1263
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number12
DOIs
StatePublished - Jun 15 2006

Keywords

  • Bohring-Opitz syndrome
  • Trigonocephaly

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