Skeletal/bone manifestationsPatients with hypophosphatasia, irrespective of age, can be affected by bone manifestations. Patients can, for example, be affected by:
  • Severe hypomineralisation
  • Rickets and skeletal deformities
  • Osteomalacia
  • Atypical/repeated/slow-healing fractures
  • Osteopenia
  • Osteoporosis
  • Spine deformities
  • Craniosynostosis
Skeletal X-rays of patients with hypophosphatasia show distinct characteristics in children and adults.

Children

 Hypomineralisation of ribs/spine deformities
Hypomineralisation of ribs/spine deformities
Whyte MB. 2008
Beaten copper appearance and craniosynostosis
Beaten copper appearance and craniosynostosis
Rockman-Greenberg C. 2013  


Hypomineralisation of forearm
Hypomineralisation of forearm
Rockman-Greenberg C. 2013
Radiolucent areas in the metaphyses
Radiolucent areas in the metaphyses
Whyte MB. 2008



Adults

Metatarsal stress fracture
Metatarsal stress fracture     Atypical femoral fracture
Berkseth KE et al. 2013
Atypical femoral fractures during treatment with bisphosphonates
Atypical femoral fractures during treatment with bisphosphonates 
Sutton RA et al. 2012


Barvencik F et al. Osteoporos Int 2011; 22: 2667-2675.
Berkseth KE et al. Bone 2013; 54: 21-27.
Coe JD et al. J Bone Joint Surg Am 1986; 68: 981-990.
Kozlowski K et al. Pediatr Radiol 1976; 5: 103-117.
Moulin P et al. Eur J Pediatr 2009; 168: 783-788.
Rockman-Greenberg C. Ped Endocrinol Rev 2013; 10 (Suppl 2): 380-388.
Shohat M et al. Pediatr Radiol 1991; 21: 421-427.
Sutton RA et al. J Bone Miner Res 2012; 27: 987-994.
Whyte MP. Hypophosphatasia: nature’s window on alkaline phosphatase function in humans. In: Bilezikian JP, Raisz LG, Martin TJ, eds. Principles of Bone Biology. Vol 1. 3rd ed. San Diego, CA: Academic Press; 2008: 1573-1598.


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SYMPTOMS AND CONDITIONS
ASSOCIATED WITH HYPOPHOSPHATASIA

COMMON SYMPTOMS AND CONDITIONS THAT
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