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Hypophosphatasia


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Hypophosphatasia

... HYPOPHOSPHATASIA INTRODUCTION; Hypophosphatasia is a rare disorder characterised by low levels of serum alkaline phosphatase activity resulting in abnormal phoshorylated metabolites and varying skeletal abnormality. Ratbun first described it in 1948, but since then reports have come from countries all over the world. DIFFERENT FORMS OF HYPOPHOSPHATASIA; Hypophosphatasia is classified into six sub groups. All six exhibit a varying skeletal abnormality. These include: 1. Adult form - occurring in middle age. 2. Childhood form - affecting children seven and upwards. 3. Odonto - affects infants and children. 4. Perinatal - affects pregnant women. 5. Infantile - Infants (6months -7 years) are effected by the; Infantile, Pseudo and Odonto forms. These then persist in adult life 6. Pseudo Hypophosphatasia- is an extremely rare form of the disease. Adult form ? Symptoms: - Premature teeth loss, - Slowness in walking with tiredness. - Pain in legs and feet. ? Diagnosis: - Stress fractures in the feet, thighs or hips. ? Prognosis: -

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