Congenital tibial pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two.
The aetiology is unclear, however, around 50% of cases are associated with neurofibromatosis type 1 (NF1). Overall, 10% of patients with NF1 are diagnosed with tibial pseudoarthrosis.
Congenital ulnar psuedoarthrosis and radial pseudoarthrosis can also occur, but much less frequently, and usually only in patients with NF1.
- progressive bowing (usually anterolateral in the tibia)
- resorption of short segment of bone
- usually at site of maximal bowing
- usually between mid and distal one third of shaft
- angulation at site of absent bone segment
- often mimics appearance of a joint
- cupping of the bone proximal to the absent section
- sharpened narrow appearance of the distal bone
- often fracture or bowing of accompanying bone (fibula with tibia, radius with ulnar)
- 1. Durga Nagaraju K, Vidyadhara S, Raja D et-al. Congenital pseudarthrosis of the ulna. J Pediatr Orthop B. 2007;16 (2): 150-2. doi:10.1097/BPB.0b013e328010b13f - Pubmed citation
- 2. Ramelli GP, Slongo T, TschäPpeler H et-al. Congenital pseudarthrosis of the ulna and radius in two cases of neurofibromatosis type 1. Pediatr. Surg. Int. 2001;17 (2-3): 239-41. Pubmed citation
- 3. Berber R, Berber O, Taguri N et-al. Pseudarthrosis of the tibia: emergency department presentation of neurofibromatosis type 1 in a 4-month-old infant. Emerg Med J. 2009;26 (4): 306-7. Emerg Med J (full text) - doi:10.1136/emj.2008.064105 - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Tibial pseudoarthrosis (congenital)||✓|
|Congenital ulnar pseudoarthrosis||✗|
|Ulnar pseudoarthrosis (congenital)||✓|
|Radial pseudoarthrosis (congenital)||✓|
|Congenital radial pseudoarthrosis||✗|