Acta Scientific Orthopaedics (ASOR) (ISSN: 2581-8635)

Case Report Volume 3 Issue 8

A Case Report of Nail Patella Syndrome and Knee Pain

Gupta Sunny1, Patel Mitesh1*, Chhipa Irfan1, Barrientos Steven2 and Grzywinski Matthew3

1Rothman Orthopaedic Institute, Sports Medicine, USA
2Department of Family Medicine, Rowan University School of Osteopathic Medicine, New Jersey, USA
3Sidney Kimmel Medical College at Thomas Jefferson University, USA

*Corresponding Author: Patel Mitesh, Rothman Orthopaedic Institute, Sports Medicine, USA.

Received: June 19, 2020; Published: July 30, 2020



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


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