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 | Â |
Adult | AR or AD | Stress fractures: metatarsal, tibia Osteoarthritis | +/- | Â |
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). |