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level: Lecture 5: Bone Pathology Part 3

Questions and Answers List

level questions: Lecture 5: Bone Pathology Part 3

Question	Answer
an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in DWARFISM.	Achondroplasia is the most common form of....
1) Decreased bone formation 2) Premature ossification of the growth plate	Pathology of Achondroplasia (2 points)
 Short statue (dwarfism).  Shortening of the arms and legs.  Bow legs.  Increased lordosis.  Frontal bossing and large head.  Facial hypoplasia.  Normal IQ, life span and fertility	Clinical Findings in Achondroplasia (7 points)
 Obesity  Subluxation (dislocation) of the 1st and 2nd cervical vertebrae and compression of the spinal cord.  spinal stenosis/neural tube narrowing (L1 – L4).  Obstructive sleep apnea.	Consequences of Achondroplasia's clinical findings: (4 points)
 No known treatment. Growth hormone does not help.  Surgical limb-lengthening.	How to treat Achondroplasia?
What is another name for "Brittle Bone Disease"?	What is another name for Osteogenesis Imperfecta?
- Osteopenia (poor bone density/health) from poor development/frequent fractures - Thin and blue scelera - Hypermobility - Early hearing loss - Short stature - Easily Bruised - Fragile and small teeth that are discolored.	Osteogenesis Imperfecta Pathological and Clinical Findings:
No cure. Treatment is supportive. Therapeutic exercises. Physical therapy. Counselling and emotional support for patients and their parents.	Osteogenesis Imperfecta treatments:
"Marble Bone Disease"	Another name for Osteopetrosis
A hereditary defect: decreased osteoclast function, leading to decreased bone resorption and thick sclerotic/rigid bones.	What is Osteopetrosis?
- Increased bone density and thickening of bone cortex. - The thickened bones are brittle and fracture easily. - Replacement of hemopoietic tissue in the bone marrow by abnormal tissue, causing pancytopenia (red/white blood creation). Extramedullary hematopoiesis (poor creation of red blood cells in marrow)	Pathology of Osteopetrosis? (3 pts)
- Recessive - Multiple fractures. - Extramedullary hemotopoiesis with hypersplenism and pancytopenia. (Poor red blood cell creation in the marrow, over-active spleen and poor overall blood production) - Hypocalcemia. - If untreated, death before age 5 due to infection and bleeding	Clinical Findings of MALIGNANT Osteopetrosis: (5pts)
- Autosomal dominant. - Usually is diagnosed in young adults who undergo X – ray for fractures. - Mild anemia. - Cranial nerve impingement	Clinical Findings of BENIGN Osteopetrosis: (4 pts)
- Increased bone mass (both cortical and trabecular bone.) - "Flask Shaped" deformity	Radiography of Osteopetrosis:
- Identical bone marrow transplantation in some children. - Surgical intervention to decompress optic or auditory nerve compression (b/c cranial nerve impingement) - Vitamin D, low calcium, high phosphate diet.	Treatment for Osteopetrosis: