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Table 1 The six clinical forms of hypophosphatasia.

From: Hypophosphatasia

Clinical form Inheritance Bone symptoms Dental symptoms Clinical diagnosis
Perinatal lethal AR Hypomineralization
Osteochondral spurs
na Radiographs
Ultrasonography
Prenatal benign AD Bowing of long bones
Benign post-natal
na Ultrasonography
Clinical examination
Infantile AR Craniosynostosis
Hypomineralization
Rachitic ribs
Hypercalciuria
Premature loss of
deciduous teeth
Clinical examination
Biology (serum AP activity, PEA and PLP).
Radiographs
Childhood AR (frequent) or AD (rare) Short stature Skeletal
deformity Waddling gait
Bone pain/fractures
Premature loss of
deciduous teeth
 
Adult AR or AD Stress fractures: metatarsal,
tibia Osteoarthritis
+/-  
Odontohypophosphatasia AR or AD Loss of alveolar bone Exfoliation (incisors).
Reduced thickness of the dentin.
Enlarged pulp chambers of teeth.
Dental caries
Clinical examination.
Biology (serum AP activity, PEA and PLP).
  1. na: not applicable;
  2. AR : autosomal recessive;
  3. AD: autosomal dominant.