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Primary trabeculodysgenesis in association with neonatal Marfan syndrome

✍ Scribed by Charlotte M. Whitelaw; Samira Anwar; Lesley C. Adès; Glen A. Gole; James E. Elder; Ravi Savarirayan

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
167 KB
Volume
128A
Category
Article
ISSN
1552-4825

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✦ Synopsis

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. © 2004 Wiley‐Liss, Inc.

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