Twenty-year follow-up of a case of hypophosphatasia

A young girl, the first surviving patient recognized as having hypophosphatasia, has been observed from age 20 months to 21 years. She is in good health. Her height has followed the 3rd percentile track. The skeletal deformities imporved during early childhood while the more striking radiographic anomalies disappeared furing puberty. But the relative osteopenia has shown minimal improvement indicating that the basic defect in bone formation persists.