A new syndrome with ocular, skeletal and renal involvement.
A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006973:Hypertension / Q000150:complications; D008297:Male; D009395:Nephritis, Interstitial / Q000150:complications*; D011884:Radius / Q000002:abnormalities; D012174:Retinitis Pigmentosa / Q000150:complications*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014457:Ulna / Q000002:abnormalities; D014786:Vision Disorders / Q000150:complications