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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.
Panoramic radiograph
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.
Panoramic radiograph
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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