Primary trabeculodysgenesis in association with neonatal Marfan syndrome
Data(s) |
01/08/2004
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Resumo |
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. (C) 2004 Wiley-Liss, Inc. |
Identificador | |
Idioma(s) |
eng |
Publicador |
John Wiley & Sons |
Palavras-Chave | #Genetics & Heredity #Marfan Syndrome #Primary Trabeculodysgenesis #Congenital Glaucoma #Genomic Organization #Gene #Fbn1 #Fibrillin #Mutation #C1 #321016 Opthalmology and Vision Science #730111 Hearing, vision, speech and their disorders #0604 Genetics #1113 Ophthalmology and Optometry |
Tipo |
Journal Article |