Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/00007611-196707000-00016 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report.
Int Med Case Rep J
December 2021
Orthopedic Department - Centro Hospitalar Universitário do Porto, Porto, Portugal.
Hereditary osteo-onychodysplasia (or nail patella syndrome) is a rare autosomal dominant disease defined by an association of severe characteristics, with a classic clinical tetrad of dysplasia of the fingernails, patellar hypoplasia or absence, presence of iliac horns, and deformities of the elbow, although renal, ocular and neurological involvement may also be present. The main orthopedic complaint of these patients is patellar instability associated with pain and functional limitation. Most of the literature regarding the treatment of NPS-related patellar problems, concerns pediatric population and there is no treatment algorithm defined for adult patients.
View Article and Find Full Text PDFTotal knee arthroplasty in a patient with nail-patella syndrome (NPS).
Knee
January 2019
Houston Methodist Othopedics & Sports Medicine, Houston, TX, United States of America. Electronic address:
Nail-patella syndrome (NPS) or hereditary onycho-osteodyaplasia is a rare genetic condition involving a mutation in the LMX1B gene affecting nails, elbows, knees, and pelvis. Due to the regulatory functions of the gene in many developmental processes through the body, patients with NPS experience wide-ranging musculoskeletal problems including patellar instability, fingernail anomalies, iliac exostoses/horns, and elbow abnormalities. The patellar changes often involve aplasia, hypoplasia, and chronic dislocation.
View Article and Find Full Text PDFMacrolunula: Case Reports of Patients with Trauma-associated Enlarged Lunula and a Concise Review of this Nail Finding.
Cureus
July 2018
Dermatologist, San Diego Family Dermatology, San Diego, USA.
The lunula refers to the visible portion of the distal nail matrix that extends beyond the proximal nail fold. Macrolunula, or enlarged lunula, is not only a physiologic variant but also has been associated with a variety of local and systemic disorders. Macrolunula has been described in congenital conditions including hereditary onycho-osteodysplasia, neoplasms such as superficial acral fibromyxoma, as well as iatrogenic causes as in the topical administration of hydrocortisone; it can also occur in systemic disorders including hyperthyroidism, ischemia, leprosy, and scleroderma.
View Article and Find Full Text PDFShort stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.
Rev Chil Pediatr
February 2018
Unidad de Endocrinología Pediátrica, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!