Primary trabeculodysgenesis in association with neonatal Marfan syndrome

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

doi:10.1002/ajmg.a.30139

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

Faculty of Medical Sciences/UMCG

Research output: Contribution to journal › Article › Academic › peer-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 language	English
Pages (from-to)	418-421
Number of pages	4
Journal	American Journal of Medical Genetics. Part A
Volume	128A
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.30139
Publication status	Published - 1-Aug-2004

Keywords

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

Access to Document

10.1002/ajmg.a.30139

Cite this

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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. (C) 2004 Wiley-Liss, Inc.",

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AU - Whitelaw, CM

AU - Anwar, S

AU - Ades, LC

AU - Gole, GA

AU - Elder, JE

AU - Savarirayan, R

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Y1 - 2004/8/1

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AB - 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.

KW - Marfan syndrome

KW - primary trabeculodysgenesis

KW - congenital glaucoma

KW - GENOMIC ORGANIZATION

KW - GENE

KW - FBN1

KW - FIBRILLIN

KW - MUTATION

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DO - 10.1002/ajmg.a.30139

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EP - 421

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

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