Osteodystrophy Flashcards
What is the most common inherited bone disease?
Osteogenesis Imperfecta
What are the characteristics of osteogenesis imperfecta?
- Mutaions in collagen type I
- Bone fragility/deformity, joint hyperextensibility, hearing loss
- Blue sclera, opalescent teeth
What is known as Marble bone disease?
Osteopetrosis
What are the characteristics of Osteopetrosis?
- Mutataion in A3 subunit of osteoclast vacuolar protom pump
- Jaws affected, more fragile, fractures
- Tx: bone marrow transplant
What disease is from a mutation in the RUNX2 gene chr 6p21, and a defect in differentiation of osteoblasts and a subset of chondrocytes?
Cleidocranial Dysplasia
What are the features of Cleidocranial Dysplasia?
- Short, frontal bossing, patent fontanels, late closure of cranial sutures
- Retention of deciduous teeth, delayed eruption
What is caused by an autosomal dominant disorder, chr 4p16 or spontaneous mutations?
Cherubism
What are the findings in Cherubism?
- Bilateral posterior mand painless swelling
- Max swelling push orbital base upward, upturned eyes, round face
- Giant cell granulomas
What is caused from mutations of non-specific alkaline phosphatase?
Hypophosphatasia
What is an x-linked dominant trait, that’s from a mutation in the PHEX gene?
Vitamin D-resistant Rickets
What do you see clinically in Vitamin-D-resistant Rickets?
- Shortened lower body
- Large pulp horns to DEJ
- Cleft in dentin
- Periapical abscess
What is vitamin d deficiency in infancy and adulthood called?
- Infancy - Rickets - growth retardation, bowing legs, costochondral junctions
- Adulthood - Osteomalacia - weak bones, fractures, diffuse skeletal pain
What is from accelerated resorption and deposition of bone, ultimately osteoblasts win and bones become sclerotic, larger and brittle?
Paget’s Disease of Bone
What is from postzygotic mutation of GNSA1 gene?
Fibrous Dysplasia
What are the radiographic features of Fibrous Dysplasia?
Ground glass opacity in early lesions
