Primary trabeculodysgenesis in association with neonatal Marfan syndrome.
Am J Med Genet A
; 128A(4): 418-21, 2004 Aug 01.
Article
en En
| MEDLINE
| ID: mdl-15264290
ABSTRACT
We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported previously. Our report expands the phenotype of nMFS, and highlights the importance of early and careful ophthalmological assessment of these infants.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Malla Trabecular
/
Glaucoma
/
Síndrome de Marfan
/
Proteínas de Microfilamentos
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Australia