Familial hyperphosphatasaemia in a Nigerian child

SUMMARY

A 5-year-old Nigerian girl of normal intelligence had grotesque crippling skeletal deformities, multiple pathological fractures and dwarfism dating back to the end of the first year of life. She also suffered from recurrent lower respiratory tract infection since infancy. The clinical, biochemical and radiological profile were compatible with the diagnosis of familial hyperphosphatasaemia.