Achondroplasia
- Autosomal Dominant
- Advanced Paternal Age
- Most Common Cause of Dwarfism
- Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
- Defective Endochondral Ossification
- Delayed Motor Milestones
- Shortened Limbs with Normal Axial Skeleton Size
- May Develop Hydrocephalus
- Symptoms of Spinal Stenosis
- Normal Life Span and Fertility
Paget's Disease of Bone
- Men > Age 40
- Increased Osteoblast and Osteoclast activity
- Mosaic Pattern
- Increased Skull Diameter
- Hearing Loss
- Fractures
- Bone Ache and Joint Pain
- High Output Heart Failure
- Bone Scan
- Normal Parathyroid hormone (PTH) and Calcium
- Elevated ALP
- Bisphosphonate
- Calcitonin
Osteogenesis Imperfecta
- Autosomal Dominant
- Decreased Type I Collagen Production
- Phenotypically Diverse
- Brittle Bone Disease
- Fractures from Minimal Trauma
- Confused with Child Abuse
- Hearing Loss
- Dental Imperfections
- Blue Sclera
Osteopetrosis (Marble Bone Disease)
- Defective Osteoclast Resorption
- Carbonic Anhydrase II Mutation
- Lack of Acidic Environment
- Fractures
- Nerve Palsies
- Myelophthisic Anemia
- Erlenmeyer Flask Bones
- Normal ALP and PTH
- Normal Calcium and Phosphorus
- Bone-in-bone Appearance
- Bone Marrow Transplant
Osteoporosis Assessment
- Postmenopausal Women
- Long Term Corticosteroids
- Kyphosis
- Dowager's Hump
- Loss of Height
- Back Pain
- Pathologic Fractures
- Spinal Compression Fracture
Osteoporosis Interventions
- Increased Calcium Intake
- Vitamin D Supplements
- Bisphosphonates
- Raloxifene
- Denosumab
- Calcitonin
- Teriparatide
- Bone Densitometry (DEXA) Scan
- Weight Bearing Exercises
Compartment Syndrome Assessment
- Trauma
- Increased Pressure
- Compressed Nerves and Blood Vessels
- 1 or more of 6 P's
- Ankle-Brachial Index (ABI)
- May take Days to develop
- Early Detection
- Ischemia
- Damage often Irreversible
Salter-Harris Fracture Classification
- SMACK
- Slipped Across Physis (Type 1)
- Metaphysis and Physis (Type 2)
- Articular-Epiphyseal (Type 3)
- Complete Metaphysis and Epiphysis (Type 4)
- Krushed Physis (Type 5)
Herniated Disc (Nucleus Pulposus)
- Spine Trauma
- Natural Degeneration
- Spinal Stenosis
- Pain
- Weakness
- Urinary and Fecal Incontinence
- Brace
- Medications
- Outpatient Procedures
- Surgery
Muscular Dystrophy
- X-linked Recessive
- Muscle Weakness
- Motor Problems
- Gower Sign
- Large Calves
- Waddling Gait
- Loss of Ambulation
- Cardiac and Respiratory Failure
Marfan Syndrome
- Fibrillin-1 Mutation
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
Ehlers-Danlos Syndrome Types
- Types 1 and 2 - Classical
- Type V Collagen Mutation
- Joints and Skin
- Type 3 - Hypermobility
- Most Common
- Tenascin X Deficiency
- Joint Instability
- Type 4 - Vascular
- Type III Collagen Mutation
- Vascular and Organ Rupture
Ehlers-Danlos Syndrome Disease
- Faulty Collagen Synthesis
- Autosomal Dominant or Recessive
- Various Severities
- Hypermobile Joints
- Hyperextensible Skin
- Easy Bruising/Bleeding
- Berry (Saccular) Aneurysm
- Brighton Criteria