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Am J Med Genet A. 2006 Jun 15;140(12):1257-63.

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

Author information

1
Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany. ABohring@aol.com

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.

PMID:
16691589
DOI:
10.1002/ajmg.a.31265
[Indexed for MEDLINE]

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