Primary trabeculodysgenesis in association with neonatal Marfan syndrome

CM Whitelaw, S Anwar, LC Ades, GA Gole, JE Elder, R Savarirayan*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)

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. (C) 2004 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)418-421
Number of pages4
JournalAmerican Journal of Medical Genetics. Part A
Volume128A
Issue number4
DOIs
Publication statusPublished - 1-Aug-2004

Keywords

  • Marfan syndrome
  • primary trabeculodysgenesis
  • congenital glaucoma
  • GENOMIC ORGANIZATION
  • GENE
  • FBN1
  • FIBRILLIN
  • MUTATION

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