The patient is unique, with respect to a discrepancy between onset and clinical severity in hypophosphatasia.
2
In contrast, we describe a male neonatal patient with hypophosphatasia who had no respiratory problems and survived.
3
With persistently decreased levels of alkaline phosphatase, upon suspicion of hypophosphatasia, plain radiography detected changes suggestive of rickets.
4
We report the case of a male patient with infantile hypophosphatasia associated with severe hypercalcaemia and mild respiratory insufficiency.
5
The onset and clinical severity are usually correlated in hypophosphatasia; patients with perinatal hypophosphatasia die approximately at the time of birth.