Nail-patella syndrome

Case contributed by Assoc Prof Frank Gaillard
Annotated image

Nail-patella syndrome. Red arrows indicate posterior iliac horns. 

Case Discussion

Nail-patella syndrome (synonyms: Fong’s disease, Trauner-Rieger syndrome) is a rare autosomal dominant condition. Clinically the key feature is absent/hypoplastic nails from birth.

Diagnostic radiographic findings include the following:

  • absent/hypoplastic patellae (with a tendency to recurrent dislocation)
  • hypoplasia of the radial head or capitellum (leading to subluxation/dislocation)
  • 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)

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