chapter 20 (bones, joints, and soft tissue tumors) Flashcards
a developmental anomaly of bone is referred to generally as?
Dysostosis
what tissues make-up the musculoskeletal system
osseous, muscular and connective tissue
what is the most common defective ossification associated with dysostosis?
fetal cartilage
the structural development during embryologic development is known as?
Homeobox gene
what is Aplasia
absent or incomplete development (abnormal function)
aplasia, supernumerary digits and abnormal fusion of bones are all examples of ?
dysostosis
the interference with growth or homeostasis is referred to in general as?
dysplasia
dysplaisa can effect what type of tissues
bone and cartilage
what is the AKA for osteogenesis imperfectia
brittle bone disease
what is the most common inherited connective tissue disorder
osteogenesis imperfecta
what is osteogenesis imperfecta
mutations of Type -1 collagen
what will osteogenesis imperfecta cause
abnormal structure –> premature breakdown
fractures, extremity bowing, scoliosis, and ligamentous laxity are all symptoms of ?
osteogenesis imperfecta
what is the most common form or dwarfism
Achondroplasia
shortening of proximal extremities, bowing of legs, frontal bossing, mid-face hypoplasia are all symptoms of ?
Achondroplasia
achondroplasia has spontaneous point mutations in what percent of individuals?
80%
what is excessive rounding of the frontal bone
frontal bossing
what bones are most effected by Achondroplasia
Femur and humerus
what type of osteogenesis imperfecta has a normal lifespan and is autosomal dominant
Type 1
spinal involvement of Achondroplasia will have what type of curves
hyperlordosis and hyperkyphosis
bullet vertebrae, scoliosis, and central canal stenosis are all symptoms of what congenital disorder
Achondroplasia
extremely small thorax, shortened long bones, and perinatal respiratory failure are associated with what form of Achondroplasia
Thanatophoric dwarfism
what can thanatrophoric dwarfism be mistake as
osteogenesis imperfecta type II
what is a group of rare genetic disorders that have decreased osteoclast-mediated bone resorption
osteopetrosis
what congenital disorder has skeletal sclerosis aka “stone-like” bone causing and increase risk of fractures
osteopetrosis
radiologically those with achondroplasia may present with what finding
Trident hand
bright white bone, no medullary cavity and erlenmeyer flask deformity is characteristic of what disease
osteopetrosis
what is the general term for loss of bone density
osteopenia
