chapter 18 genetic and metabolic diseases.slides

8/17/2019 Chapter 18 Genetic and Metabolic Diseases.slides

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I. GENETIC DISEASES

Ectodermal Dysplasia

Cherubism

OsteogenesisImperfecta

Osteopetrosis

Cleidocranial Dysostosis

Craniofacial Dysostosis

(Crouzon's Syndrome)

Mandibulofacial

Dysostosis (Treacher

Collins Syndrome)

Achondroplasia

Clefts of the Lip and

Palate

Pierre Robin Syndrome

Sickle Cell AnemiaThalassemia

Hemifacial Hypoplasia

Hemifacial HypertrophyGardner's Syndrome


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Fig. 18-1Ectodermal dysplasia.

Patient exhibiting

hypodontia.


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Fig. 18-2

Cherubism. Panoramic

radiograph showing

extensive multilocular

radiolucent lesions of themandible and maxilla.


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Fig. 18-3Osteogenesis imperfecta.

The dental changes are

similar to those ofdentinogenesis

imperfecta: teeth

constricted near the

cervical portions, thin and

short roots, calcification of

pulp chambers and root

canals. Clinically, thecrowns are of opalescent

hue.


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Fig. 18-4

Osteopetrosis.Lateral skull

radiograph shows

dense calcification of jaws and skull,

resulting in loss of

trabeculae. All thesinuses are

obliterated with bone.


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Fig. 18-5

Cleidocranialdysostosis. In the

absence of clavicles,

the patient can bringthe shoulders forward

towards the midline.

Note theunderdeveloped

maxilla.


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Fig. 18-6Cleidocranial dysostosis.

Postero-anterior skull

radiograph showsdelayed closure of

sutures and fontanelles,

and presence of multiplewormian bones. Multiple

supernumerary teeth are

present.


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Fig. 18-7

Cruzon's disease

(craniofacial dysostosis).

Facial malformation

shows hypoplasia of

maxilla with mandibular

prognathism. Eyesexhibit hypertelorism,

exophthalmos and

divergent strabismus.


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Fig. 18-8

Cruzon's disease

(craniofacial dysostosis).

Lateral skull radiograph

shows early closure of

all cranial sutures. Note

the prominent digitalmarkings.


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Fig. 18-9

Treacher Collins

syndrome

(mandibulofacial

dysostosis). Note thecharacteristic facial

appearance: downward

slanting of palpebralfissures, colobomas of

outer third of lower

eyelids, depressedcheek bones, receding

chin, and a nose that

appears relatively large.


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Fig. 18-10

Achondroplasia.

Patient shows

extremities which are

short in comparison

with the torso.

Achondroplastic

dwarfism must not be

mistaken with pituitary

dwarfism; in the latter,

the size of the limbs isin proportion to the

size of the torso.


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Fig. 18-11

Cleft of the maxilla

situated between

the maxillary lateral

incisor and canine.


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Fig. 18-12

Pierre Robinsyndrome. Infant

exhibiting severe

micrognathia of themandible.


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Fig. 18-13

Sickle cell anemia.Lateral skull

radiograph shows

thicker than normalcranial vault and

linear markings of

"hair-on-end"appearance.


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Fig. 18-14

Sickle cell anemia.

Enlarged marrow

spaces with the

trabeculae giving a

"stepladder"

appearance.


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Fig. 18-16Thalassemia.

Panoramic radiograph

shows generalizedrarefaction, thinning of

cortical bone, and

enlarged marrow

spaces with thin

trabeculation.


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Fig. 18-17

Hemifacialhypoplasia. The

affected side of the

face is smaller thanthe normal side. Note

the crumpled and

distorted pinna of theexternal ear on the

involved side.


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Fig.18-18

Hemifacialhypertrophy. Facial

asymmetry resulting

from progressivegrowth of half of the

face.


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Fig. 18-19

Gardener’ssyndrome. Postero-

anterior skull

radiograph showsmultiple osteomas

(arrows).


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II. METABOLIC DISEASES:

Paget's Disease

Hyperparathyroidism

Hypoparathyroidism

Hyperpituitarism

Hypopituitarism

Hyperthyroidism

Hypothyroidism

Diabetes Mellitus

Cushing's Syndrome

Rickets and

Osteomalacia

Hypophosphatasia

Osteoporosis

Scleroderma


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Fig. 18-20A

Paget's disease.Lateral skull

radiograph shows

patchy radiopacitiesgiving the

characteristic "cotton-

wool" appearance.


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Fig. 18-20BPaget’s disease

showing a “cotton-

wool” appearance ona postero-anterior

projection of the skull.


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Fig. 18-22

Paget's disease.

Periapicalradiographs show

patchy radipacities of

the jaws, spacing ofteeth, loss of lamina

dura and some

hypercementosedteeth.


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Fig. 18-23

Hyperparathyroidism.


shows generalized

disappearance of

lamina dura andreduction in

radiographic bone

density in both jaws.


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Fig. 18-24

Hyperparathyroidism.Osteoporosis of bone

is seen on the

radiograph as havinga ground glass

appearance with loss

of trabecular bonepattern. Also, there is

loss of lamina dura.


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Fig. 18-25

Hyperparathyroidism.Central giant cell

lesions known as

"brown tumors"produce ill-defined

radiolucencies and

disappearance oflamina dura.


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Fig. 18-26

Hyperpituitarismproducingacromegaly. Themain feature is theenlargement of themandible, producing aClass III skeletal

malocclusion.


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Fig. 18-27

Pituitary dwarfismresulting fromhypopituitarism. The

individual is of smallstature andproportionate body.

Pituitary dwarfismmust not be mistakenwith achondroplasticdwarfism; in the latter,

the extremities areshort in comparisonwith the torso.


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Fig. 18-28

Hyperthyroidism.Enlargement of the

thyroid gland in a

patient with

hyperthyroidism.


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Fig. 18-29

Cretinism resultingfrom hypothyroidism.The individual hasshort, fat, puffy

features, and anextremely largetongue causing

separation of teeth.


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Fig. 18-30

Diabetes mellitus.Uncontrolled diabetes

mellitus shows loss of

alveolar bone.


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Fig. 18-31

Rickets. Periapicalradiograph shows

rarefaction of bone

and disappearance oflamina dura.


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Fig. 18-32

Osteomalacia.Panoramic radiograph

shows osteoporosis

of bone anddisappearance of

lamina dura.


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Fig. 18-33

Hypophosphatasia.Teeth show thin

enamel, thin root

dentin, thincementum, and large

pulp chambers.


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Fig. 18-34

Osteoporosis.


of an elderly female

shows a reduction in

the overall quantity oftrabeculae in the

cancellous bone. The

cortical bone is thinand less dense.


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Fig. 18-35

Scleroderma.Radiographs show

generalized abnormal

width of periodontalmembrane space.


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chapter 18 genetic and metabolic diseases.slides

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