Prenatal Diagnosis of Hypophosphatasia

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Abstract
Hypophosphatasia is a rare, recessively inherited metabolic disorder characterized by low serum and tissue alkaline phosphatase, the presence of phosphoethanolamine in the urine1 , 2 and osseous changes that are histologically similar to those of rickets.3 , 4 We recently reported the intrauterine diagnosis of hypophosphatasia in a woman undergoing amniocentesis because of late maternal age.5 In this case the clue to diagnosis was the failure to visualize a fetal head on ultrasonography. The absence of alkaline phosphatase activity in amniotic fluid also suggested the diagnosis.In a second family, the prenatal diagnosis of hypophosphatasia was established by abnormal ultrasonography findings but with different . . .

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