Ocular Manifestations and Treatment Considerations for the Patient With Cardio-Facial-Cutaneous Syndrome
โ Scribed by Shannon Joy Dehesa
- Book ID
- 119339018
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 48 KB
- Volume
- 82
- Category
- Article
- ISSN
- 1529-1839
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Velo-cardio-facial-syndrome (VCFS) is a common congenital disorder associated with typical facial appearance, cleft palate, cardiac defects, and learning disabilities. The majority of patients have an interstitial deletion on chromosome 22qll. In addition to physical abnormalities, a variety of psyc
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.