Hypophosphatasia congenita letalis.
Hypophosphatasia is a serious enzymatic defect, where the serum alkaline phosphatase is considerably diminished or completely absent. The urine or serum contain excessive quantities of phosphoethanolamine.. The illness manifests itself with severe disorder of mineralisation in the skeletal system. We report a child with extremely severe manifestations. There was no bony cranial vault and all the extremities were shortened and thick. The alkaline phosphatase was extremely low and the secretion of phosphoethanolamine and proline was considerably increased. The differential diagnosis and the prenatal diagnostics will be mentioned in this case report.
D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis*; D007231:Infant, Newborn; D007234:Infant, Premature; D011247:Pregnancy; D011296:Prenatal Diagnosis