title: Infantile high myopia in Bohring-Opitz syndrome.
abstract: Bohring-Opitz syndrome is a rare genetic condition of uncertain inheritance. It was first delineated by Bohring and coworkers in 1999 and up to 15 possible cases have been reported. It has both ophthalmic and systemic features and represents a unique syndrome considered to be distinct from Opitz C trigonocephaly syndrome. The classic features of Bohring-Opitz syndrome include prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant neurodevelopmental delay. We report a child with Bohring-Opitz syndrome and infantile high myopia. Bohring's original description of the phenotype did not include myopia but since then both this case and two others have reported this association. The presence of high myopia may be helpful in identifying suitable candidate genes and elucidating the genetic mechanism, as well as alerting ophthalmologists to the importance of refraction for affected children.
authors.affiliation: The Peninsula Medical School, Universities of Exeter and Plymouth, Exeter, Devon, UK. andy.simpson@doctors.org.uk
authors.forename: Andrew R H
authors.initials: AR
authors.lastname: Simpson
authors.forename: Caspar E A
authors.initials: CE
authors.lastname: Gibbon
authors.forename: Anthony G
authors.initials: AG
authors.lastname: Quinn
authors.forename: Peter D
authors.initials: PD
authors.lastname: Turnpenny
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D018450:Disease Progression; D005094:Exophthalmos / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005546:Forehead / Q000002:abnormalities; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D009216:Myopia / Q000175:diagnosis / Q000235:genetics*; D012029:Refraction, Ocular; D013577:Syndrome; D013997:Time Factors