Syndromes

Question 1

What is paget’s disease? Clinical features?

Answer 1

Bone is broken down and replaced much faster than normal, leading to weaker bones.

• Involves multiple areas of skeleton
• Results in enlarged skull, jaw, and facial bones
• Increase fractures
• Patients over 40 with gradual onset.
• Narrowing of skull foramina leads to cranial nerve dysfunction.

Question 2

What are the radiographic features of pagets disease? Treatment? Higher incidence of?

Answer 2

• Decreased density of bone
• Poorly-defined RO areas with cotton wool appearance.
• Hypercementosis on multiple teeth.

Treament: Calcitonin and bisPhos. Not fatal.
Increased incidence of osteosarcoma.

Question 3

What are the clinical features of hyperprathyroidism? Radiographic findings?

Answer 3

• joint and bone pain
• Renal calculi
• Peptic ulcers
• Cognitive impairment.
• Generalized decreased bone density, ground glass appearance, loss of trabeculation, lamina dura and cortical plates.

Question 4

Laboratory features of primary and secondary hyperparathyroidism? Treatment for both?

Answer 4

1. Primary: Increased serum calcium and PTH. Treatment is excision of parathyroid gland.
2. Secondary: Decreased/normal serum calcium, increased PTH. Treatment is renal dialysis or transplant.

Question 5

What is osteogenesis imperfecta? Clinical features?

Answer 5

Genetic disease caused by defective cross liking of collagen making bones fragile.

• Multiple fractures
• Blue sclerae
• Hearing losss
• Large skull with prominent frontal bones.
• Opalescent teeth

Question 6

What is osteopetrosis? Radiographic features?

Answer 6

Osteoclasts are unable to resorb bone, leading to thick but brittle bones.
-Dense bone all over, osteomyelitis.

Question 7

What are the oral features of ectodermal dysplasia?

Answer 7

• Hypodontial or adontia
• Hypoplasia of alveolar ridges
• Cone-shaped teeth
• Xerostomia

Question 8

What are clinical features of cherubism? Radiographic? treatment?

Answer 8

• Progressive, nontender swelling of jaws
• Bilateral radiolucent lesions, mutlilocular RL areas, multiple unerupted teeth.

Lesions stop growing after puberty and can be surgical recontoured in wanted.

Question 9

What are the characteristics of Gardner Syndrome?

Answer 9

• Genetic
• 3/4 of patients have dental abnormalities or osteomas.
• Associated with cancer
• Polyps of colon, which turn into cancer.
• Mutliple unerupted permanent and supernumerary teeth.
• Multiple epidermoid cysts/fibrous tumors of skin.

Question 10

What is craniofacial dysostosis (Crouzon disease)? CLinical features? Radiographic? Treatment?

Answer 10

Genetic early closure of sutures.

• Midface hypoplasia and exopthalmos.
• Beaten metal skull appearance.

Treatment: Craniectomy early to allow space for brain.

Question 11

What is apert syndrome?

Answer 11

Craniofacial dysostosis with syndactyly.

Question 12

What is cleidocranial dysplasia? Clinical features?

Answer 12

Genetic, fontanels are open or close late.

• Wormian bones
• missing clavicle in some cases.
• High narrow palate.
• Multiple unerupted supernumerary teeth.

Question 13

What are the clinical features of Mandibulofacial Dysostosis (Treacher Collins syndrome)?

Answer 13

Genetic disease with convex facial profile.

• Hypoplastic zygomatic arch
• Mandibular hypoplasia
• Underdeveloped ramus/condyle
• Fissure of lower eyelid.
• Conductive hearing loss

Question 14

What are the characteristics of Papillon-Lefevre Syndrome?

Answer 14

• Juvenile periodontosis, with severe alveolar bone loss, gingivitis, and premature loss of teeth.
• Hyperkeratosis of palms and soles.