Bone Pathology I - Osteoporois, osteopetrosis, x-linked hyphophosphoataemia, cleidocranial dysplasia Flashcards
1
Q
Inherited and developmental disorders of bone?
A
- Osteogenesis imperfecta
- Osteopetrosis (marble bone disease)
- Achondroplasia
- Cleidocranial dysplasia (cleidocranial dysostosis)
- X-linked hypophosphatemia
- Fibro-osseous lesions
- Cherubism
- Noonan’s Syndrome
2
Q
Mutataion in osteogenesis imperfects?
A
Genes that code for collagen I
3
Q
Osteogenesis imperfecta?
A
- Generalised osteoporosis.
- Slender long bones with narrow poorly formed cortices.
- Immature woven bone.
- Fracture tendency, healing may form exuberant callus.
4
Q
What is osteogenesis imperfecta associated with?
A
Dentinogenesis imperfecta
5
Q
Effect of osteogenesis imperfecta on the eye?
A
- The sclerae are thin and the pigmented choroid shines
through. Therefore, the sclerae appear blue.
6
Q
Effect of osteogenesis imperfecta on teh eyes, skin, ear and heart?
A
- Thin translucent skin.
- Joint hypermobility with lax ligaments.
- Deafness is common due to the distortion of the ossicles in
the ear. - Heart valve defects.
7
Q
Osteopertrosis aka?
A
- Marble bone disease, Albers- Schonberg disease.
8
Q
Osteopetrosis?
A
- Defect in the differentiation and function of osteoclasts.
- Abnormal formation of the skeleton and increased bone
mass. - Dense fragile bones prone to infection and fractures.
- Obliteration of marrow spaces,
secondary anaemia. - Delayed tooth eruption.
- Osteomyelitis following extractions.
9
Q
What bone disease?
A
Osteopetrosis
10
Q
Radiographic presentation of osteopetrosis?
A
- Radiographically, no distinction between cortical and trabecular bone.
- Variation in Jaw involvement.
- Mandible more frequently affected.
- Roots may be invisible in radiographs due to bone density being so high
- Possible obliteration of the maxillary sinus.
11
Q
Achondroplasia?
A
- Most common form of dwarfism.
- Abnormal endochondral ossification.
- Defect or absence in the zone of provisional calcification of the cartilage in the epiphyses and base of the skull.
- Retrusive facial middle third
due to defective growth of the
base of the skull. - Severe malocclusion.
12
Q
Cleidocranial dysplasia affects what bones?
A
- Skull: open fontanelles,
prominent frontal, parietal and
occipital bones. - Depressed nasal bridge.
- Dental anomalies.
- Partial or complete absence
of clavicles.
13
Q
Bone disease?
A
Cleidocranial Dysplasia
14
Q
Radiographic appearance of Cleidocranial Dysplasia?
A
- Underdeveloped maxilla with a high narrow arched palate.
- Sparse or even missing cellular cementum.
- Retained deciduous dentition.
- Multiple impactions.
- Supernumerary teeth.
- Dentigerous cysts.
- Thin roots.
- thin roots
15
Q
X- linked Hypophosphataemia?
A
- Vitamin D resistant rickets.
- A type of rickets characterized by low serum phosphate
levels and a lack of response to treatment with vitamin D, in
contrast to nutritional rickets. - Short stature, and radiographs show short and squat long
bones. - Delayed eruption of teeth.
- Dentine fails to mineralise properly and the pulp may
become infected through pulp horn defects, leading to
abscess formation in the absence of dental caries. - Predentine is widened, whilst circumpulpal dentine is
thinned and resembles interglobular dentine.
28
Q
how does cleidocranial dysplasia affect cellular cementum?
A
sparse of even missing cellular cementum
thin roots on radiographs
