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?
We 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. In addition, decreased vision, refractive errors, strabismus, and optic disc anomalies were reported in CFC patients. This observation suggests that NS and CFC are variable manifestations of the same entity.
Lorenzetti
M E
ME
Pediatrics Department, University of Parma, Italy.
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000855:Anorexia / Q000150:complications; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009634:Noonan Syndrome / Q000150:complications / Q000209:etiology*; D011247:Pregnancy; D012174:Retinitis Pigmentosa / Q000150:complications*; D013577:Syndrome