title: [Clinical, radiological and arthroscopical aspects in nail patella syndrome. Literature review based on an affected family].
abstract: Nail patella syndrome (NPS) is an autosomal dominant hereditary disorder affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes and iliac horns on plain films. The existing literature focuses on clinical and radiographic findings in patients with NPS. We also report the case of a 40-year-old male patient and his family affected by NPS and includes clinical, radiographic as well as arthroscopic findings. Arthroscopic findings in this case are characterized by multiple synovial plicae in the knee joint leading to cartilage defects on the corresponding cartilage surfaces. A review of the recent literature suggests that the occurrence of synovial plicae might be related to NPS and might account for at least part of the characteristic symptoms of these patients. Therefore, in cases of unspecific knee pain associated with NPS arthroscopy of the knee joints and plicae resection seems to be recommendable.
authors.affiliation: Department für Orthopädie und Traumatologie, Universitätsklinikum Freiburg. phniemeyer@aol.com
authors.forename: P
authors.initials: P
authors.lastname: Niemeyer
authors.forename: M
authors.initials: M
authors.lastname: Edlich
authors.forename: O
authors.initials: O
authors.lastname: Hauschild
authors.forename: T
authors.initials: T
authors.lastname: Baumann
authors.forename: N A
authors.initials: NA
authors.lastname: Ghanem
authors.forename: P C
authors.initials: PC
authors.lastname: Strohm
authors.forename: N P
authors.initials: NP
authors.lastname: Südkamp
mesh_terms: D000328:Adult; D001182:Arthroscopy; D005190:Family; D006801:Humans; D008297:Male; D009261:Nail-Patella Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome