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level: Lecture 5: Bone Pathology Part 3

Questions and Answers List

level questions: Lecture 5: Bone Pathology Part 3

QuestionAnswer
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 platePathology 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 fertilityClinical 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 bleedingClinical Findings of MALIGNANT Osteopetrosis: (5pts)
- Autosomal dominant. - Usually is diagnosed in young adults who undergo X – ray for fractures. - Mild anemia. - Cranial nerve impingementClinical Findings of BENIGN Osteopetrosis: (4 pts)
- Increased bone mass (both cortical and trabecular bone.) - "Flask Shaped" deformityRadiography 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: