New cases of Bohring-Opitz syndrome, update, and critical review of the literature.
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.
Bohring
Axel
A
Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany. ABohring@aol.com
Oudesluijs
Grétel G
GG
Grange
Dorothy K
DK
Zampino
Giuseppe
G
Thierry
Patrick
P
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