Prenatal diagnosis and management of perinatal lethal hypophosphatasia after introduction of enzyme replacement therapy-a new proposed classification

摘要

Perinatal form of hypophosphatasia (HPP) is a rare, potentially life-threatening, and systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. I review focuses on the role of fetal and neonatal imaging modalities, including ultrasonography and fetalCT, in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis, hypochondrogenesis, cleidocranial dysplasia).