title: New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
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.
authors.affiliation: Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany. ABohring@aol.com
authors.forename: Axel
authors.initials: A
authors.lastname: Bohring
authors.forename: Grétel G
authors.initials: GG
authors.lastname: Oudesluijs
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zampino
authors.forename: Patrick
authors.initials: P
authors.lastname: Thierry
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000473:pathology; D005094:Exophthalmos / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005546:Forehead / Q000002:abnormalities; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome