hrp0089p3-p038 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Infantile Hypophosphatasia

Buleş Derya , Aycan Zehra

Hypophosphatasia is characterized by defective mineralization of bone and/or teeth in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. Although the disease spectrum is a continuum, six clinical forms are usually recognized based on age at diagnosis and severity of features: Perinatal (severe)...