Nail Syndrome Patella : nécessité d’une prise en charge multidisciplinaire
Year: 2023
Type: article
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.
Source: Medical Focus Journal
Author: Boudghene Stambouli, Omar
Language: French
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7220549919