Systems Pathology I Material Flashcards
What is the general term for a developmental anomaly of bone?
dysostosis
what causes dysostosis?
Abnormal mesenchymal migration during embryogenesis
what is the result of dysostosis?
Defective ossification of fetal cartilage
What is Klippel-Feil Syndrome?
Congenital fusion of any 2 cervical vertebrae
What is the most common congenital malformation?
Syndactyly
What condition represents malformation and dysostosis of the scapula?
Sprengel’s Deformity
What term is used to describe absent or incomplete development of tissue?
aplasia
What is dysplasia?
When mutations interfere with growth or homeostasis (dwarfism)
Multiple fractures, extremity bowing, scoliosis, ligamentous laxity (dislocations), and hearing loss are associated with what musculoskeletal congenital disorder?
Osteogenesis imperfecta
The zebra stripe sign is associated with what musculoskeletal congenital disorder?
Osteogenesis imperfecta
Is achondroplasia usually sporadic or inherited?
sporadic (75%)
What musculoskeletal congenital condition is accompanied by short proximal extremities, lower extremity bowing, frontal bossing, and mid face hypoplasia (low nasal bridge)?
Achondroplasia
What percentage of achondroplasia diagnoses are inherited?
25%
What type of dwarfism is primarily endocrine oriented and is more rare than achondroplasia?
Hypopituitary dwarfism
Spinal issues including hyperlordosis and hyperkyphosis at birth, bullet vertebrae, scoliosis, and spinal stenosis are common among which musculoskeletal genetic disorder?
achondroplasia
What two specific types of spinal stenosis are common among achondroplasia patients?
Foramen magnum stenosis and spinal canal stenosis
What is another name for osteogenesis imperfecta?
brittle bone disease
What type of dwarfism is completely fatal?
Thanatophoric dwarfism
Extremely small thorax with shortened long bones leading to perinatal respiratory failure occurs with which musculoskeletal congenital disorder?
Thanatophoric dwarfism
What rare genetic disorder is a result of decreased osteoclast-mediated bone resorption?
Osteopetrosis
Why is deranged hematopoiesis common with osteopetrosis?
The medullary cavity fills with extra bone due to the decreased osteoclast activity
Why does hepatosplenomegaly occur with osteopetrosis?
The liver and spleen attempt to take over the function of the bone marrow that has been compressed and therefore hypertrophy
Erlenmeyer flask deformity is present among which musculoskeletal disorder?
osteopetrosis
What is the most important form of osteopenia?
osteoporosis