Table of Contents

INTRODUCTION

Definitions

Clinical Evaluation

Establishing the correct diagnosis

Management

ACHONDROPLASIA GROUP

Achondroplasia

Hypochondroplasia

Thanatotropic Dysplasia

MESOMELIC DYSPLASIAS

Leri-Weill dyschondrosteosis

Langer mesomelic dysplasia

DYSPLASIAS WITH DECREASED BONE DENSITY

Osteogenesis imperfecta

Idiopathic Juvenile Osteoporosis

INCREASED BONE DENSITY WITHOUT DISRUPTION OF BONE SHAPE

Osteopetroses

Pyknodysostosis

DISORDERS OF MINERALIZATION

Hypophosphatasia

Hypophosphatemic rickets

X-linked hypophosphatemic rickets

Autosomal hypophosphatemic rickets

Hereditary hypophosphatemic rickets with hypercalciuria

The vitamin D system

Vitamin D dependent rickets type I (deficiency of the 1?-hydroxylase)

Hereditary vitamin D resistant rickets

DISORDERS OF PARATHYROID HORMONE ACTION

Jansen's metaphyseal chondrodysplasia

Pseudohypoparathyroidism (PHP)