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Primary trabeculodysgenesis in association with neonatal Marfan syndrome
Author(s) -
Whitelaw Charlotte M.,
Anwar Samira,
Adès Lesley C.,
Gole Glen A.,
Elder James E.,
Savarirayan Ravi
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30139
Subject(s) - marfan syndrome , association (psychology) , primary (astronomy) , medicine , philosophy , epistemology , physics , astronomy
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.