[Radiological diagnosis (and differential diagnosis) of lethal type (congenital type) of hypophosphatasia (author's transl)].

Abstract

Diagnosis of Hypophosphatasia can be proved by typical radiological findings. The paper presents a case report of a newborn living only a few hours. Diagnosis according to clinical aspect was "Osteogenesis imperfecta" although a postmortal x-ray-babygram was available but which had not been shown to a radiologist. Anatomical diagnosis with the histological findings was then altered to "Metaphyseal chondrodysplasia, Jansen-type". Finally the diagnosis could be corrected to congenital, lethal type of Hypophosphatasia after the babygram had been shown to a radiologist. The typical radiological features of congenital Hypophosphatasia are described subsequently and differential diagnosis of Congenital Osteochondrodysplasias is discussed. The importance of early or postmortal diagnosis for genetic counselling is stressed as well as a close cooperation between obstetricians and pediatric radiologists. Typical biochemical findings are mentioned.