Developmental disturbances of bone signed

DEVELOPMENTAL
DISTURBANCES OF BONE
hagir Abd Rahman

CORONOID HYPERPLASIA
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CORONOID HYPERPLASIA
 rare developmental anomaly.
 male- to-female ratio is 5: I .
 Most commonly occur bilaterally.
 The enlarged coronoid impinges on the posterior
surface of the zygoma, restricting mandibular
opening
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 the mandible may deviate toward the affected
side.
 Radiographs reveal an irregular, nodular
growth of the tip of the coronoid
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Treatment
 Surgical removal of the elongated coronoid process
or processes to allow freedom of mandibular
motion.
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CONDYLAR HYPERPLASIA
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 is an uncommon malformation of the mandible.
 The cause unknown, suggested causes:
 local circulatory problems.
 endocrine disturbances.
 Trauma
 adolescents and young adults .
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 female-to-male ratio of 3 : 1
 facial asymmetry, prognathism, and open bite.
Deviation of the mandibe to the opposite side.
 The radiographic features:
 enlargement of the condylar head
 elongation of the condylar neck.
 hyperplasia of the entire ramus
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Enlargement of the left mandibular condyle
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prominent enlargement of the right mandibular condyle
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Treatment
 treatment is determined by the degree of functional
difficulty and aesthetic change.
 unilateral condylectomy.
 unilateral or bilateral mandibular osteotomies.
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CONDYLAR HYPOPLASIA
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 underdevelopment of the condyle.
 unilateral or bilateral
 small mandible with a Class II malocclusion
 The mandibular midline shifts to the involved side.
 Ankylosis of the TMJ can develop in cases caused by
trauma
hagir Abd Rahman

congenital
oculoauriculovertebral syndrome
(Goldenhar syndrome)
mandibulofacial dysostosis
acquired
trauma
rheumatoid arthritis
radiation
infections
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HEMIHYPERTROPHY
HEMIHYPERPLASIA
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 asymmetric over growth of one or more body parts.
 2: I female to- male ratio.
 one whole side of the body (complex) may be
affected, or may be limited to a single part
(simple).
hagir Abd Rahman

 The condition is present at birth but becomes more
obvious with growth in the succeeding years.
 If the enlargement is confined to one side of the
face; the term hemifacial hyperplasia (hemifacial
hypertrophy).
 20% of those affected are mentally retarded.
hagir Abd Rahman

 an increased prevalence of abdominal tumors;
Wilms tumor, adrenal cortical carcinoma, and
hepatoblastoma.
 Unilateral macroglossia.
 Enlargement of other oral soft tissues and bone can
occur
hagir Abd Rahman

 The mandibular canal may be increased in size on
radiographs.
 the teeth can be large
 the skin is thickened and demonstrate increased
pigmentation, and excessive hair (hypertrichosis)
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McCune-Albright syndrome
Neurofibromatosis
Beckwith-Wiedemann syndrome
Multiple exostoses syndrome
Epidermal nevus syndrome
Maffucci syndrome
Segmental odontomaxillary dysplasia
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Treatment
 During childhood, periodic ultrasound examination
should be performed to rule out development of
abdominal tumors.
 After the patient's growth has ceased, cosmetic
surgery can be performed
hagir Abd Rahman

ROMBERG SYNDROME
PARRY-ROMBERG SYNDROME
HEMIFACIAL ATROPHY
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 rare disorder represents a progressive unilateral
atrophy of the face.
 The cause is unknown, although trauma,, infection, and
genetic abnormalities have been suggested.
 The onset of the syndrome is usually during the first
two decades of life .
hagir Abd Rahman

 the tongue, lips, and salivary glands may show
hemiatrophy.
 Developing teeth may show incomplete root
development and delayed eruption.
 If associated with epilepsy, trigeminal neuralgia, and
changes in the vision and hear is known as Romberg's
syndrome
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HEMIFACIAL ATROPHY
right-
sided
facial
atrophy
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Treatment
 The atrophy progresses slowly for several years, and
then becomes stable.
 Plastic surgery
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OROFACIAL CLEFTS
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Development
 the upper lip forms when the merging of the medial
nasal processes and the maxillary processes.
 The primary palate is formed by the fusion of the
medial nasal processes.
 The secondary palate is formed from the maxillary
processes
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 Defective fusion of the medial nasal process with
the maxillary process leads to cleft lip (CL).
 Failure of the palatal shelves to fuse results in cleft
palate (CP).
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Rare clefts
 lateral facial cleft is caused by lack of fusion of the
maxillary and mandibular processes and represents
(0.3%).
 may occur as an isolated defect or may be
associated with mandibulofacial dysostosis.
 may be unilateral or bilateral, extending from the
commissure toward the ear
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Rare clefts
 oblique facial cleft extends from the upper lip to the
eye (I in 1300 clefts).
 failure of fusion of the lateral nasal process with the
maxillary process.
 always associated with CP.
 may involve the nostril, or it may laterally bypass the
nose as it extends to the eye.
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Rare clefts
 Median cleft of the upper lip results from failure of
fusion of the medial nasal processes.
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Cleft lip and palate
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 45% of cases are CL + CP.
 30% being isolated CP
 25% being isolated CL.
 syndromes are estimated to account for 3 - 8% of orofacial
clefts.
 CL ± CP is more common in males while isolated CP is more
common in females.
hagir Abd Rahman

Cleft lip
 80% of cases are unilateral.
 70% of unilateral CL occur on the left side.
 A complete CL extends upward into the nostril.
 clefts involving the alveolus usually occur between
the lateral incisor and canine
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Cleft lip
unilateral
cleft of
the upper
lip
hagir Abd Rahman

Cleft lip
bilateral
cleft of
the upper
lip
hagir Abd Rahman

Cleft palate
 CP may involve the hard and soft palates or the
soft palate alone.
 The minimal manifestation of CP is a cleft or bifid
uvula.
 In some instances a submucous palatal cleft
develops, Frequently a notch in the bone is present
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Cleft palate
Palatal
defect
resulting in
communicati
on
with the
nasal cavity.
hagir Abd Rahman

Submucous palatal deft
There is a
cleft of the
midline
palatal bone.
but the
overlying
mucosa is
intact
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TREACHER COLLINS SYNDROME
MANDIBULOFACIAL DYSOSTOSIS
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Clinical features
 defects of structures derived from the 1st and 2nd
branchial arches.
 autosomal dominant trait.
 Hypoplastic zygomas resulting in a narrow face with
depressed cheeks
 The parotid glands may be hypoplastic or may be
totally absent
hagir Abd Rahman

Clinical features
 75% of patients have a coloboma or notch on the
outer portion of the lower eyelid.
 50% of the patients have no eyelashes medial to
the coloboma.
 Deformed pinnae, ossicle defects or absence of the
external auditory canal causing hearing loss.
hagir Abd Rahman

Clinical features
 Under developed mandible resulting in a markedly
retruded chin.
 Radiographs often demonstrate condyle and
cronoid hypoplasia, and prominent antegonial
notching.
 Cleft palate is seen in about ⅓ of cases, and 15%
have lateral facial clefting
hagir Abd Rahman

 Patient exhibits a hypoplastic mandible, and
ear deformities
hagir Abd Rahman

Treatment
 cosmetic surgery
hagir Abd Rahman

ALBERS-SCHONBERG DISEASE;
MARBLE BONE DISEASE
OSTEOPETROSIS
hagir Abd Rahman

pathogenesis
 rare hereditary disorders characterized by failure
of normal osteoclast function or differentiation.
 osteoclasts fail to resorb bone in the normal
resorption-remodeling cycle (0.7% per day). Thus,
all bones progressively become more dense, less
cellular, and less vascular.
hagir Abd Rahman

eliminates microstress lines and microfractures
Multiple fractures
maintains marrow cavity spaces
anemia,
thrombocytopenia
hepatosplenomegaly
maintains foramen
nerve compression
resorption-remodeling cycle
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classification
Autosomal recessive infantile
(malignant) type
Autosomal recessive
intermediate type
Autosomal dominant adult
(benign) type.
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1. Autosomal Recessive Infantile
Osteopetrosis
 diagnosed at birth or in early infancy.
 diffusely sclerotic skeleton, frequent fractures, and
growth impairment.
 marrow failure leading to normocytic anemia,
hepatosplenomegaly, and Granulocytopenia with
increased susceptibility to infection.
hagir Abd Rahman

 broad face, hypertelorism, and frontal bossing.
 cranial nerve compression causing blindness,
deafness, and facial paralysis.
 Delayed or failure of eruption.
hagir Abd Rahman

2. Autosomal Recessive Intermediate
Osteopetrosis
 asymptomatic at birth but exhibit fractures by the
end of the first decade.
 Mild to moderate anemia and extramedullary
hematopoiesis are common, but bone marrow
failure is rare.
 Short stature, mandibular prognathism, unerupted
teeth
hagir Abd Rahman

3. Autosomal Dominant Adult
Osteopetrosis
 discovered later in life and exhibits less severe
manifestations
 40% are asymptomatic, and marrow failure is rare.
 Two major variants:
 cranial nerve compression is common, rare fractures.
 frequent fractures, but nerve compression is uncommon.
hagir Abd Rahman

Radiographically
 there is a widespread increase in skeletal density.
 the roots of the teeth often are difficult to
visualize because of the density of the
surrounding bone.
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mandibular
osteomyelitis.
and multiple
draining
fistulae.
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 hepatosplenomegaly
 exposed necrotic bone

 Early lesions may be
identified on a C-spine
radiograph, which will
show an increased
density of the
vertebral cortices, the
so-called sandwich
appearance
hagir Abd Rahman

Differential diagnosis
X-ray to jaws only
chronic diffuse
sclerosing osteomyelitis
Paget disease
Necrotic bone,
no x-ray
osteomyelitis
cemento-osseous
dysplasia
Bisphosphonate
induced osteonecrosis
Paget disease
hagir Abd Rahman

Histopathologic Features
 Osteoclasts may be increased, decreased, or
normal in number; however, they are not functional
 Howship lacunae are not visible.
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Treatment
 the prognosis of infantile osteopetrosis without therapy
is typically poor, with most affected patients dying
during the 1st decade of life.
 Bone marrow transplantation
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Treatment
 Interferon gamma, often in combination with calcitriol,
to reduce bone mass, decrease the prevalence of
infections, and lower the frequency of nerve
compression.
 supportive measures such as transfusions and antibiotics
for the complications.
hagir Abd Rahman

BRITTLE BONE DISEASE
OSTEOGENESIS IMPERFECTA
hagir Abd Rahman

 group of heritable disorders characterized by
osteopenia (low bone density) and bone fragility due to
impairment of collagen maturation.
 mutations in one of two genes that guide the formation
of type 1 collagen which is a major constituent of bone,
dentin, sclerae, ligaments, and skin.
 COLI A1 gene on chromosome 17
 COLI A2 gene on chromosome 7.
hagir Abd Rahman

Clinical features
 Both autosomal dominant (>90% ) and recessive
hereditary patterns occur.
 Bone fragility, bone and spine deformities, and joint
hyperextensibility.
 blue sclera.
 hypoacusis (hearing loss).

Clinical features
 altered teeth similar to dentinogenesis imperfecta
and called opalescent teeth.
 class III malocclusion that is caused by maxillary
hypoplasia, with or without mandibular hyperplasia
and open bite.
 triangular facies, frontal bossing, macrocephaly,
and a prominent occiput.

Radiographically
 osteopenia, bowing, angulation or deformity of the
long bones, multiple fractures, and wormian bones
in the skull.
 Wormian bones consist of ten or more sutural bones
that are 6 X 4 mm in diameter or larger and
arranged in a mosaic pattern

classification
Type I (Mild) type II (lethal) Type III Type IV
IA:
multiple bone
fractures (children
and older
individuals)
extreme bone
fragility and
multiple early
fractures (in utero)
50% will have
some form of DI
dentinogenesis
imperfecta
kyphosis,
scoliosis, bowing of
long bones, and
macrocephaly,
hearing loss
stillbirths or early
infant deaths
very short stature,
multiple bone
fractures, severe
kyphoscoliosis
(leading to death)
.
Multiple fractures
at Birth, and ↓
fractures after
puberty.
IB:
type IA +
dentinogenesis
imperfecta
enlarged dental
pulps and atubular
dentin
children may have
blue sclerae, but it
appear normal in
adults
sclerae are blue at
birth only

Opalescent dentin
shell teeth with thin dentin and
enamel of normal thickness.

Histopathology
 The ossification centers develop
normally in cartilaginous bone,
but no ossification occurs.
 Cortices are thin, and medullary
trabeculae are few, fragile, and
subject to microfractures.
 In the severely affected infant,
the skull may be fibrous; in
adults, it may be composed of
small wormian bones.
bone is undermineralized and more
cellular than normal bone

Treatment and Prognosis
 Management of the fractures by physiotherapy,
rehabilitation, and orthopedic surgery.
 intravenous bisphosphonates may reduced fractures
and supported more normal function.
 In patients with significant malocclusion, orthognathic
surgery

CLEIDOCRANIAL DYSOSTOSIS
CLEIDOCRANIAL DYSPLASIA

pathogenesis
 autosomal dominant inheritance
 defect in the CBFAI gene located in chromosome
6p21.
 The gene normally guides osteoblastic
differentiation, chondrocyte maturation, and
appropriate bone formation..

Clinical features
 The clavicles are hypoplastic and malformed or
absent, either unilaterally (right) or bilaterally.
 The neck appears long, and the shoulders are narrow
with marked drooping.
 Hypermobility of the shoulders. some patient can
approximate the shoulders in front of the chest

Clinical features
 short stature.
 large heads with pronounced frontal and parietal
bossing.
 Ocular hypertelorism and a broad base of the nose
with a depressed nasal bridge.

Clinical features
 Abnormal development of the temporal bone and
eustachian tube may lead to hearing loss.
 narrow, high-arched palate, ↑ prevalence cleft
palate.
 Prolonged retention of deciduous teeth and delay or
complete failure of eruption of permanent teeth

Radiographic features
 the sutures and fontanels show delayed closure or
may remain open throughout life.
 many wormian bones may be seen.
 dental radiographs: presence of numerous unerupted
permanent and supernumerary teeth, many of which
frequently exhibit distorted crown and root shapes

absence of the left clavicle and only a
small segment of the right clavicle in
the sternoclavicular area

multiple
unerupted
teeth, with
associated
supernumer
ary teeth

Large
frontal
and
occipital
bones.
Wormian
bone

Treatment
 removal of primary and supernumerary teeth followed
by exposure of permanent teeth that are subsequently
extruded orthodontically.
 autotransplantation of selected impacted teeth
followed by prosthetic restoration.
 full-mouth extractions with denture construction.

CRANIOFACIAL DYSOSTOSIS
CROUZON SYNDROME

pathogenesis
 characterized by craniosynostosis (premature
closing of the cranial sutures).
 mutation of the fibroblast growth factor receptor 2
(FGFR2) gene on chromosome 10q26.
 autosomal dominant

Clinical features
 The premature sutural closing leads to cranial
malformations:
 brachycephaly (short head).
 scaphocephaly (boat-shaped head).
 trigonocephaly (triangle-shaped head).

Clinical features
 The orbits are shallow, resulting in characteristic ocular
proptosis
 Visual impairment or total bindness and hearing deficit.
 The maxilla is underdeveloped, resulting in midface
hypoplasia and crowded maxillary teeth.
 headaches, attributable to increased intracranial
pressure.

Ocular proptosis and midface hypoplasia

ACROCEPHALOSYNDACTYLY
APERT SYNDROME

pathogenesis
 mutation of the fibroblast growth factor receptor 2
(FGFR2) gene on chromosome 10q26.
 autosomal dominant.

Clinical features
 Craniosynostosis producing Acrobrachycephaly
(tower skull).
 Syndactyly of the hand and feet (join of digits)

Clinical features
 Ocular proptosis, Hypertelorism. and sometimes
blindness.
 Hypoplastic middle third of the face resulting in a
relative mandibular prognathism, V-shaped arch
and crowding of the teeth.
 reduced size of the nasopharynx leads to mouth
breathing and open mouth.

Clinical features
 Trapezoid appearance to the lips when they are
relaxed.
 ¾ of the patients exhibit either a cleft of the soft
palate or a bifid uvula
 Swellings of the lateral hard palate from
accumulation of glycosaminoglycans especially
hyaluronic acid.

APERT SYNDROME
 ⅓ of patients exhibit
Shovel shaped incisors

Midface hypoplasia and
ocular proptosis.
tower skull, midface hypoplasia,
and digital markings.

swellings of
the posterior
lateral hard
palate,
resulting in
Pseudo-cleft
formation.

Treatment
 Craniectomy
 Cosmetic surgery.
 orthodontic therapy

 are localized bony protuberances that arise
from the cortical plate.

Buccal exostoses
 discovered most often in adults.
 bilateral rows of bony hard nodules along the
facial aspect of the maxillary and/or
mandibular alveolar ridge.
 They usually are asymptomatic, unless the thin
overlying mucosa becomes ulcerated from
trauma.

Multiple buccal
exostoses of the
maxillary and
mandibular alveolar
ridges.

Palatal exostoses (palatal tubercles)
develop from the lingual aspect of the maxillary tuberosities.

 a common exostosis.
 bony hard mass that arises along the midline
of the hard palate.
 Mostly are small, measuring < 2cm.
 female-to-male ratio is 2: I

 is a common exostosis that develops along the
lingual aspect of the mandible.
 presents as a bony protuberance along the lingual
aspect of the mandible in the region of the
premolars.
 bilateral tori may become so large that they almost
meet in the midline.

 Torus is causing a
radiopacity that is
superimposed over
the roots of the
mandibular teeth.
 Occlusal radiograph
showing bilateral
mandibular tori.

 mass of dense, lamellar, cortical bone with a
small amount of fibrofatty marrow.

Treatment
 surgical removal

 Elongation of the styloid process or mineralization
of the stylohyoid ligament complex.
 symptoms caused by compression of adjacent
nerves or blood vessels.

Clinical and Radiographic Features
 Adults.
 women > men.
 facial pain, especially while swallowing, turning the
head, or opening the mouth.
 dysphagia, dysphonia, otalgia, headache, dizziness,
syncope, and transient ischemic attacks.

Mineralization of the
stylohyoid ligament

Treatment
 In mild cases, no treatment, only Local injection of
corticosteroids sometimes to relief the pain.
 In severe cases, partial surgical excision of the
elongated styloid process or mineralized stylohyoid
ligament

FOCAL OSTEOPOROTIC MARROW DEFECT

pathogenesis
 An area of hematopoietic marrow that is sufficient
in size to produce a radiolucency.
 The pathogenesis is unknown, the following theories
have been proposed:
 Aberrant bone regeneration after tooth extraction
 Persistence of fetal marrow
 Marrow hyperplasia in response to increased demand
for erythrocytes

 75% of cases occur in adult females
 70% in the posterior mandible, most often in
edentulous areas.
 asymptomatic and nonexpansile.
 well-circumscribed radiolucency

Fairly well-
circumscribe
radiolucency
with fine
central
trabeculation

 normal hematopoietic
and/or fatty marrow

Treatment
 no treatment is needed.

dense bone island
bone scar
focal periapical osteopetrosis.
IDIOPATHIC OSTEOSCLEROSIS

 focally increased bone density of unknown cause.
 arise in the late first or early second decade.
 may remain static or slowly increase in size.
 once the patient reaches full maturity, the sclerotic
area stabilizes. In a smaller percentage, the lesion
diminishes or undergoes complete regression.

 90% mandible, most often in the first molar area.
 well-defined radiopacity without radiolucent rim

Treatment
 Follow up until the area stabilizes.
 no treatment is indicated

GORHAM DISEASE
GORHAM-STOUT SYNDROME
VANISHING BONE DISEASE
PHANTOM BONE DISEASE
IDIOPATHIC OSTEOLYSIS
MASSIVE OSTEOLYSIS

 characterized by spontaneous and usually
progressive destruction of one or more bones.
 The destroyed bone is replaced by a vascular
proliferation and, ultimately, dense fibrous tissue
without bone regeneration.

pathogenesis
1) Trauma
2) Increased osteoclastic activity

Clinical Features
 children and young adults
 50% of patients recall prior trauma
 extremities, maxillofacial region (mandible), trunk,
and pelvis.
 mobile teeth, pain, and pathologic fracture

Radiographic Features
 earliest changes consist of intramedullary
radiolucent foci of varying size with indistinct
margins.
 These foci coalesce, enlarge, and extend to the
cortical bone,destructing large portions of bone

 ill-defined radiolucency
 extensive
bone loss
and a
pathologic
fracture of
the left
mandible.

 Vascular proliferation
intermixed with fibrous
connective tissue and
chronic inflammatory
cells

Treatment
 surgical resection.
 Surgical reconstruction is advisable to delay until
arrest of the osteolytic disease phase.
 bisphosphonates and/ or alpha-2b interferon lead
to disease stabilization

Developmental disturbances of bone signed

Developmental disturbances of bone signed

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