Abstract

 Nail-Patella Syndrome (NPS), also known as Fong’s Disease, Turner-Keiser Syndrome or Hereditary Onychoosteodysplasia (HOOD), is a rare hereditary condition affecting 1 in 50,000 individuals. The condition is associated with mutations in the LMX1B gene and is inherited in an autosomal dominant pattern. Patients with this syndrome may have several musculoskeletal abnormalities including hypoplastic or absent patellae, underdeveloped elbows, and iliac horns. The joint abnormalities associated with this condition predispose patients to osteoarthritis (OA) and easy joint dislocation. Other common findings include nail abnormalities (absent or hypoplastic nails, nail ridges, and nail discoloration), renal dysfunction, glaucoma, irritable bowel syndrome, rash, and neuropathy. Here, we describe the case of a patient with known NPS presenting with bilateral knee pain.

Keywords: Nail-Patella Syndrome; Fong Disease; Turner-Keiser Syndrome; Iliac Horns

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Citation

Citation: Patel Mitesh., et al. “A Case Report of Nail Patella Syndrome and Knee Pain". Acta Scientific Orthopaedics 3.8 (2020): 69-71.

Copyright

Copyright: © 2020 Patel Mitesh., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.