|
The six clinical forms of hypophosphatasia. |
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| Clinical form |
Inheritance |
Bone symptoms |
Dental symptoms |
Clinical diagnosis |
|
|
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| 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). |
|
na: not applicable; AR : autosomal recessive; AD: autosomal dominant. | ||||
Mornet Orphanet Journal of Rare Diseases 2007 2:40 doi:10.1186/1750-1172-2-40 |
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