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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.