Nagel-Patella-Syndrom
Nail-patella syndrome (also known as Fong disease, osteo-onychodysostosis, Österreicher-Turner syndrome , Turner-Kieser syndrome, and Trauner-Rieger syndrome) is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities.
Clinical presentation
Clinically, the key feature is absent or hypoplastic nails from birth. Individuals may have flexion contractures and recurrent knee dislocations.
Pathology
The underlying genetic defect is caused by loss-of-function mutations in the transcription factor LMX1B on chromosome 9 .
Associations
- renal dysfunction
Radiographic features
Plain radiograph
Diagnostic radiographic findings include:
- fragmented/absent/hypoplastic patellae with a tendency for recurrent patellar dislocation
- hypoplasia of the radial head and/or capitellum leading to subluxation or dislocation dorsally
- bilateral posterior iliac horns ("Fong prongs")
- flared iliac crests with protuberant anterior iliac spines
The bilateral posterior iliac horns, due to exostoses arising from the posterior aspect of the iliac bones, are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome. The horns may be capped by an epiphysis. Other features include:
- scoliosis
- genu valgum deformity (due to asymmetrical development of the femoral condyles)
- open-angle glaucoma
- prominent tibial tuberosities
- clinodactyly of the 5 finger
- short 5 metacarpal
- mandibular cysts
- renal osteodystrophy
Differential diagnosis
For absent patella(e), consider:
- popliteal pterygium syndrome
- surgical removal of the patella
- small patella syndrome (ischiopatellar dysplasia)
- Meier-Gorlin syndrome
History and etymology
Iliac horns were described by Edward Everett Fong (b. 1912- fl. 1964 ), an American radiologist in 1946 .
Treatment and prognosis
Multidisciplinary teams are required to treat patients with Nail-patella syndrome, these include orthopedics, pediatricians and other complications of the conditions: nephrologists, ophthalmologists, general practitioners, dieticians, and physiotherapists to name a few .
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Nagel-Patella-Syndrom: