title: Primary trabeculodysgenesis in association with neonatal Marfan syndrome.
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.
authors.affiliation: Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.
authors.forename: Charlotte M
authors.initials: CM
authors.lastname: Whitelaw
authors.forename: Samira
authors.initials: S
authors.lastname: Anwar
authors.forename: Lesley C
authors.initials: LC
authors.lastname: Adès
authors.forename: Glen A
authors.initials: GA
authors.lastname: Gole
authors.forename: James E
authors.initials: JE
authors.lastname: Elder
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
mesh_terms: D002851:Chromatography, High Pressure Liquid; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005901:Glaucoma / Q000209:etiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D014129:Trabecular Meshwork / Q000002:abnormalities*; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines