"Hypophosphatasia"

Raised serum acid phosphatase activity in an adult with hypophosphatasia

“…X-ray skeletal survey showed diminution of bone density throughout the skeleton with bowing of both tibiae and was reported as consistent with hypophosphatasia. DISCUSSION Hypophosphatasia was first described by Rathbun (1948) and there have been subsequent case reports of this condition by, e.g. Fraser (1957) and Bethune and Dent (1966).…”

Long-term follow-up of children with chronic non-bacterial osteomyelitis—assessment of disease activity, risk factors, and outcome

“…However, a further decline in length and weight was not documented. Inflammation in conjunction with metabolic energy consuming processes might play a role in CNO [ 27 , 28 ]. Due to the limited number of patients, this finding may not be overinterpreted.…”

“…Due to the limited number of patients, this finding may not be overinterpreted. So far, only a few patients with a monogenetic disease background mimicking CNO and also affecting growth restrictions have been reported, like hypophosphatasia and Majeed syndrome [ 28 , 29 ]. In daily pediatric practice, low weight and height should prompt the caring physician to consider further metabolic or genetic diagnostic approaches in CNO.…”

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

“…HPP is caused by loss of function mutations in the ALPL gene. The first case of HPP was reported in 1948 and the ALPL gene mutation was first reported in 1988 [1, 21]. HPP presents a heterogeneous phenotype ranging from life threatening to asymptomatic presentation.…”