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Nail-patella syndrome

Nail-patella syndrome is an autosomal dominant condition affecting 1 in 50 000. 

It is classically described as a tetrad of: 
  • Dysplasia of nails 
  • Small or absent patellae 
  • Elbow dysplasia 
  • Iliac horns – occur in 70%; pathognomonic. 

Other features associated with nail-patella syndrome are: 
  • Renal abnormalities (25%) 
  • Sometimes glaucoma in adulthood 


References:
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Abdelghafour

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Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)