Encephalocraniocutaneous lipomatosis and the Proteus syndrome: Distinct entities with overlapping manifestations

Retinitis pigmentosa in a young man with

Retinitis pigmentosa in a young man with Noonan syndrome: Further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?

✍ Lorenzetti, Maria-Elena; Fryns, Jean-Pierre 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 285 KB 👁 2 views

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.