Hypophosphatasia in the Newborn.

Rathbun (1948) first described the syndrome of hypophosphatasia as a definite entity, although previous authors had described patients now thought to be examples of this syndrome. This disorder has also been called rickets with deficiency of alkaline phosphatase (Sobel, Clark, Fox and Robinow, 1953; Schlesinger, Luder and Bodian, 1955) and osteodysmetamorphosis foetalis (Engfeldt and Zetterstrom, 1954). The clinical manifestations of hypophosphatasia vary according to the time of onset. In severely affected babies the features are present at birth or before birth, and include a globular bonedeficient skull, skeletal deformities, renal lesions and defective pulmonary ventilation; in less severely affected infants, generalized skeletal deformities, anorexia, vomiting, hypotonia and irritability develop during the first six months of life; and in mildly affected patients, premature loss of deciduous teeth and bowing of the long bones may be the presenting features. The incidence of hypophosphatasia, based upon four confirmed cases in unrelated families seen at the Hospital for Sick Children, Toronto (Fraser, 1957), is about 1 in 100,000 births. This case report is concerned with the first newborn baby with hypophosphatasia born in the Liverpool Maternity Hospital where about 3,000 babies are born each year.