Infantile high myopia in Bohring-Opitz syndrome.
J AAPOS
; 11(5): 524-5, 2007 Oct.
Article
em En
| MEDLINE
| ID: mdl-17498985
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Refração Ocular
/
Anormalidades Múltiplas
/
Miopia
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
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Risk_factors_studies
Limite:
Female
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Humans
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Newborn
Idioma:
En
Revista:
J AAPOS
Assunto da revista:
OFTALMOLOGIA
/
PEDIATRIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Reino Unido
País de publicação:
EEUU
/
ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
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EUA
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UNITED STATES
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UNITED STATES OF AMERICA
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US
/
USA