What is perinatal hypophosphatasia?
Perinatal hypophosphatasia is usually identified on ultrasound during pregnancy. Babies with perinatal severe hypophosphatasia have underdeveloped rib cages and short bowed arms and legs. Babies with this condition often have a severe complication called pulmonary insufficiency. Pulmonary, or respiratory, insufficiency is where the baby’s rib cage is too small for lungs to develop normally. Pulmonary insufficiency typically leads to death due to breathing difficulties. Some pregnancies affected with hypophosphatasia end in stillbirth.