This chapter further discusses bone dysplasias and includes discussion on hypophosphatasia, neonatal severe primary hyperparathyroidism, and hereditary rickets. Each discussion includes major radiographic features, major clinical findings, major laboratory findings, genetics, major differential diagnoses, and a bibliography.
Chapter 130 covers neonatal severe primary hyperparathyroidism (MIM 239200), including major clinical findings, radiographic features, and differential diagnoses.