W e report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found.
β¦ LIBER β¦
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
β Scribed by Legius, Eric; Schollen, Els; Matthijs, Gert; Fryns, Jean-Pierre
- Book ID
- 110024665
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 410 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1018-4813
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Retinitis pigmentosa in a young man with
β
Lorenzetti, Maria-Elena; Fryns, Jean-Pierre
π
Article
π
1996
π
John Wiley and Sons
π
English
β 285 KB
π 2 views
P38.09: Prenatal sonographic findings in
β
V. A. Catanzarite; N. B. Duerbeck
π
Article
π
2008
π
John Wiley and Sons
π
English
β 49 KB
Neurologic and gastrointestinal dysfunct
β
Grebe, Theresa A. ;Clericuzio, C.
π
Article
π
2000
π
John Wiley and Sons
π
English
β 673 KB
Spectrum of mutations in PTPN11 and geno
β
Musante, Luciana; Kehl, Hans G; Majewski, Frank; Meinecke, Peter; Schweiger, Sus
π
Article
π
2003
π
Nature Publishing Group
π
English
β 120 KB
Spectrum of mutations in PTPN11 and geno
β
Musante, Luciana; Kehl, Hans G; Majewski, Frank; Meinecke, Peter; Schweiger, Sus
π
Article
π
2003
π
Nature Publishing Group
π
English
β 32 KB
Cardio-facio-cutaneous (CFC) syndrome in
β
Lopez-Rangel, E. ;Hrynchak, M. ;Friedman, J. M.
π
Article
π
1993
π
John Wiley and Sons
π
English
β 340 KB
π 2 views
We describe a 61h-year-old girl with the cardio-facio-cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv( 7)(