Primary trabeculodysgenesis in association with neonatal Marfan syndrome |
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Authors: | Whitelaw Charlotte M Anwar Samira Adès Lesley C Gole Glen A Elder James E Savarirayan Ravi |
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Affiliation: | Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. |
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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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