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Abstract
The "Nail-Patella syndrome" or onycho-osteodysplasia is transmitted as an autosomal dominant pleiotropic whose manifestations suggest an abnormality primary connective tissue. The disease has been described in all populations. It is characterized by dystrophic nails, fingers and toes (80 to 90%), absence or hypoplasia of the ball joints, elbows dysplasia and exostosis of the iliac wings (30 to 70% of cases). Nephropathy is inconsistent with type of proteinuria sometimes nephrotic syndrome, hematuria (half the cases). Approximately 30% of patients progress to ESRD at an average age of 33 years.
We report the observation of two different families.
References
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