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Review
. 1999 Aug 27;85(5):438-46.
doi: 10.1002/(sici)1096-8628(19990827)85:5<438::aid-ajmg2>3.0.co;2-a.

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

A Bohring  1 , M Silengo, M Lerone, D W Superneau, C Spaich, S R Braddock, A Poss, J M Opitz
Affiliations
Review

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

A Bohring et al. Am J Med Genet. .

Abstract

We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies. We also review two very similar published cases formerly considered to have the C syndrome. Although there is overlap, a clinical distinction from the Opitz trigonocephaly and other syndromes seems possible, and thus a specific causal entity may be postulated.

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Comment in

  • Severe end of Opitz trigonocephaly C syndrome.
    Lindor NM, Ramin KD, Kleinberg F, Bite U. Lindor NM, et al. Am J Med Genet. 2000 Jun 19;92(5):363-5. doi: 10.1002/1096-8628(20000619)92:5<363::aid-ajmg14>3.0.co;2-5. Am J Med Genet. 2000. PMID: 10861669 No abstract available.
  • Bohring syndrome.
    Brunner HG, van Tintelen JP, de Boer RJ. Brunner HG, et al. Am J Med Genet. 2000 Jun 19;92(5):366-8. doi: 10.1002/1096-8628(20000619)92:5<366::aid-ajmg15>3.0.co;2-u. Am J Med Genet. 2000. PMID: 10861670 No abstract available.
  • New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
    Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. Bohring A, et al. Am J Med Genet A. 2006 Jun 15;140(12):1257-63. doi: 10.1002/ajmg.a.31265. Am J Med Genet A. 2006. PMID: 16691589 Review.
  • Anaesthesia and orphan diseases: Bohring-Opitz syndrome.
    Barry D, MacSweeney K, Barry G, O'Brien B. Barry D, et al. Eur J Anaesthesiol. 2021 Jul 1;38(7):788-790. doi: 10.1097/EJA.0000000000001317. Eur J Anaesthesiol. 2021. PMID: 34101642 No abstract available.

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