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The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: Are they the same?

✍ Scribed by Fryer, A. E. ;Holt, P. J. ;Hughes, H. E.

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
449 KB
Volume
38
Category
Article
ISSN
0148-7299

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Retinitis pigmentosa in a young man with
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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.

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Cardio-facio-cutaneous (CFC) syndrome: Report of an adult without mental retardation
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We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic