Primary trabeculodysgenesis in association with neonatal Marfan syndrome.
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.
Whitelaw
Charlotte M
CM
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.
Anwar
Samira
S
Adès
Lesley C
LC
Gole
Glen A
GA
Elder
James E
JE
Savarirayan
Ravi
R
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
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines