Lesson 7 (BONE DISEASES) FINALS Flashcards
brittle bones
OSTEOGENESIS IMPERFECTA
_______ is a dense calcified tissue affected by a variety of diseases causing dynamic reactions
bone
characteristically follows _______ patterns of heredity; however, sometimes a specific disease will be inherited in one case and not in another
mendelian
(BONE AND BONE DISEASES)
True or false
both maxilla and mandible do not suffer from generalized and
localized forms of skeletal diseases
FALSE
(both maxilla and mandible SUFFER from generalized and
localized forms of skeletal diseases)
the anatomic arrangement of the teeth embedded ______ in
the bone often produces a modified response to the primary injury
partially
fragilitas ossium
OSTEOGENESIS IMPERFECTA
osteopsathyrosis
OSTEOGENESIS IMPERFECTA
Lobstein’s disease
OSTEOGENESIS IMPERFECTA
closely related to dentinogenesis imperfecta
OSTEOGENESIS IMPERFECTA
arise or recognize later in childhood; also called osteopsathyrosis
Lobstein’s Type or tarda
What disease ?
Lobstein’s Type or tarda
OSTEOGENESIS IMPERFECTA
What disease?
Vrolik’s Type or congenita
OSTEOGENESIS IMPERFECTA
True or false
many infants affected with osteogenesis imperfecta are stillborn or die shortly after birth
True
extreme fragility and porosity of the bones with an
attendant proneness to fracture
OSTEOGENESIS IMPERFECTA
the fracture heals readily but new bone is of imperfect
quality
OSTEOGENESIS IMPERFECTA
→ hyperplastic callus formation
OSTEOGENESIS IMPERFECTA
pale blue sclerae
OSTEOGENESIS IMPERFECTA
o may be exuberant and mimics osteosarcoma
o in some cases true sarcoma arises
hyperplastic callus formation
(OSTEOGENESIS IMPERFECTA)
o abnormally thin sclerae causing pigmented choroid to show and produce its bluish color
pale blue sclerae
(OSTEOGENESIS IMPERFECTA)
not confined to this diseases; also seen in:
- osteopetrosis
- fetal rickets
- Marfan syndrome
- Ehlers-Danlos syndrome
(M,E,F,O)
OSTEOGENESIS IMPERFECTA
white sclerae
OSTEOGENESIS IMPERFECTA
found in older patients with more severe disease and earlier onset of fractures
white sclerae
additional signs and symptoms:
o laxity of the ligaments
o peculiar shape of the skull
o abnormal electrical reaction of the muscles
o capillary bleeding with no specific blood dyscrasia or
defect
OSTEOGENESIS IMPERFECTA
→ thin cortices
o composed of immature spongy bone
o trabeculae of the cancellous bone are delicate and show
microfractures
OSTEOGENESIS IMPERFECTA
failure of fetal collagen to be transformed to mature collagen in the organic matrix
OSTEOGENESIS IMPERFECTA
→ calcification proceeds normally
→ defective intermolecular cross-linkage of adjacent collagen
molecules
OSTEOGENESIS IMPERFECTA
Caffey’s disease, Caffey-Silverman Syndrome
INFANTILE CORTICAL HYPEROSTOSIS
described by Caffey, Silverman, Smith and their coworkers
INFANTILE CORTICAL HYPEROSTOSIS
unusual cortical thickening in bones of infants without presence of cortical thickening diseases such as scurvy, rickets
INFANTILE CORTICAL HYPEROSTOSIS
ETIOLOGY
→ generally, unknown but a few theories have been suggested:
**embryonal osteodysgenesis consequent to a local defect in
the blood supply to the area
INFANTILE CORTICAL HYPEROSTOSIS
ETIOLOGY
inherited defect of arterioles supplying the affected part
results in hypoxia, producing focal necrosis of overlying soft
tissues and periosteal proliferation
INFANTILE CORTICAL HYPEROSTOSIS
ETIOLOGY
allergic phenomenon where edema and inflammation
produces periosteal elevation and subsequent deposition of
calcium
INFANTILE CORTICAL HYPEROSTOSIS
CLINICAL FEATURES
→ development of tender, deeply placed soft-tissue swellings and cortical thickening or hyperostosis involving various bones of the skeleton
INFANTILE CORTICAL HYPEROSTOSIS
→ arises either:
o during first three months of life
o may not appear before the second year
o in the fetus in utero
o within first few hours after birth
INFANTILE CORTICAL HYPEROSTOSIS
familial type appears to have an earlier onset than the sporadic type
INFANTILE CORTICAL HYPEROSTOSIS
→ mandible and the clavicles are most frequently affected
→ other bones affected include the calvarium, scapula, ribs,
tubular bones of the extremities, including the metatarsals
INFANTILE CORTICAL HYPEROSTOSIS
→ soft-tissue swellings:
o associated with deep muscles
o occur in locations where hyperostoses arise
o described in the scalp, face, neck, thorax, and extremities
INFANTILE CORTICAL HYPEROSTOSIS
→ other signs & symptoms: (not inevitably present)
o fever
o hyperirritability
o pseudoparalysis
o dysphagia
o pleurisy
o anemia
o leukocytosis
o monocytosis
o elevated sedimentation rate
o increased serum alkaline phosphatase
INFANTILE CORTICAL HYPEROSTOSIS
RADIOGRAPHIC FEATURES
→ involvement may be unilateral or bilateral
→ gross thickening and sclerosis of the cortex due to an actively
proliferating periosteum
INFANTILE CORTICAL HYPEROSTOSIS
course of disease not altered by sulfonamides or penicillin
INFANTILE CORTICAL HYPEROSTOSIS
Marie and Sainton’s Disease
CLEIDOCRANIAL DYSPLASIA
Scheuthauer-Marie-Sainton Syndrome,
CLEIDOCRANIAL DYSPLASIA
Mutational Dysostosis
CLEIDOCRANIAL DYSPLASIA
often but not always hereditary; when inherited, appears as a
dominant mendelian characteristic
CLEIDOCRANIAL DYSPLASIA
may be transmitted by either sex
CLEIDOCRANIAL DYSPLASIA
→ in sporadic cases, represent either:
o a recessively inherited disease
o incomplete penetrance in a genetic trait with variable gene
expression
o true new dominant mutation
CLEIDOCRANIAL DYSPLASIA
affects men and women with equal frequency
CLEIDOCRANIAL DYSPLASIA
abnormalities of the skull, teeth, jaws, and shoulder girdles
CLEIDOCRANIAL DYSPLASIA
in the skull:
o fontanels remain open or exhibit delayed closing and are thus, large
o suture may remain open and wormian bones are common
o sagittal suture is characteristically sunken, giving the skull a
flat appearance
CLEIDOCRANIAL DYSPLASIA
head is brachycephalic, or wide and short, with the
transverse diameter of the skull being increased
CLEIDOCRANIAL DYSPLASIA
→ in the shoulder girdle:
o ranges from:
- complete absence of clavicles
- partial absence or simple thinning of one or both clavicles
o patients have unusual mobility of shoulders and may bring shoulders forward until midline
CLEIDOCRANIAL DYSPLASIA
anomalous muscles may be secondary to bony involvement
CLEIDOCRANIAL DYSPLASIA
TREATMENT AND PROGNOSIS
→ no specific treatment but care for the oral conditions is important
→ retained deciduous teeth must be restored if carious since their extraction does not necessarily induce eruption of the permanent teeth
CLEIDOCRANIAL DYSPLASIA
utilization of the pedodentists, orthodontist, and oral surgeon can build potential for eruption of the permanent teeth using correct timing of surgical procedures for uncovering teeth and orthodontic repositioning for excellent functional results
CLEIDOCRANIAL DYSPLASIA
Crouzon disease or syndrome
CRANIOFACIAL DYSOSTOSIS
occurs without syndactyly
CRANIOFACIAL DYSOSTOSIS
→ genetic disease with a variety of cranial deformities, facial
malformations, eye changes, and others
→ follows a hereditary pattern through an autosomal dominant
trait
→ some cases have shown no hereditary or familial history
CRANIOFACIAL DYSOSTOSIS
ETIOLOGY
→ thought to result from a retardation or failure of differentiation of maxillary mesoderm at and after the 50 mm stage of the embryo
CRANIOFACIAL DYSOSTOSIS
→ all variations in appearance is due to early synostosis of the sutures
→ protuberant frontal region with an anteroposterior ridge overhanging the frontal eminence and often passing to the root of the nose (triangular frontal defect)
→ facial malformations consist of hypoplasia of the maxillae with mandibular prognathism and a high arched palate (cleft in some cases)
CRANIOFACIAL DYSOSTOSIS
→ facial angle is exaggerated
→ nose resembles a parrot’s beak
CRANIOFACIAL DYSOSTOSIS
→ eye changes include:
o hypertelorism
o exophthalmos with divergent strabismus and optic neuritis
o choked disks resulting frequently in blindness
CRANIOFACIAL DYSOSTOSIS
→ may present spina bifida occulta
→ mentality of patient may or may not be retarded
→ not all features are inevitably present
→ prognathic mandible may not be found
CRANIOFACIAL DYSOSTOSIS
craniectomy at an early age to provide space for the rapidly growing brain
CRANIOFACIAL DYSOSTOSIS
Treacher Collins syndrome
MANDIBULOFACIAL DYSOSTOSIS
Franceschetti syndrome
MANDIBULOFACIAL DYSOSTOSIS
→ encompasses a group of related defects of the head and face
→ hereditary or familial in pattern, following an irregular form of
dominant transmission
MANDIBULOFACIAL DYSOSTOSIS
→ antimongoloid palpebral fissures with a coloboma of the outer portion of the lower lids and deficiency of the eyelashes (and sometimes the upper lids)
→ hypoplasia of the facial bones, especially of the malar bones and mandible
MANDIBULOFACIAL DYSOSTOSIS
→ malformation of the external ear and occasionally the middle and internal ears
→ macrostomia, high palate (sometimes cleft) and abnormal position and malocclusion of the teeth
→ blind fistulas between the angles of the ears and the angles of the mouth
MANDIBULOFACIAL DYSOSTOSIS
→ atypical hair growth in the form a tongue-shaped process of the hairline extending towards the cheeks
→ other anomalies such as facial clefts and skeletal deformities
→ characteristic facies are described as “birdlike or fishlike” in
nature
→ teeth of upper jaw are unaffected
MANDIBULOFACIAL DYSOSTOSIS
→ malar bones are grossly and symmetrically underdeveloped → may be agenesis of the malar bones
→ nonfusion of the zygomatic arches
→ absence of palatine bones
MANDIBULOFACIAL DYSOSTOSIS
→ cleft palate may be visible
→ hypogenesis and sometimes agenesis of the mandible
→ underdeveloped paranasal sinuses
→ infantile and sclerotic mastoids
→ absent auditory ossicles and deficient cochlea and vestibular
apparatus
→ normal cranial vault
MANDIBULOFACIAL DYSOSTOSIS
Robin Anomalad
PIERRE ROBIN SYNDROME
the isolated defect is considered a sporadic or non-genetic
condition with a very low recurrence risk in the family
PIERRE ROBIN SYNDROME
→ if associated with other genetic syndromes, may carry a very high recurrence risk
→ commonly associated conditions:
o Stickler syndrome
o cerebrocostomandibular syndrome
o camptomelic syndrome
o persistent left superior vena cava syndrome
PIERRE ROBIN SYNDROME
consists of:
o cleft palate
o micrognathia
o glossoptosis
PIERRE ROBIN SYNDROME
→ the primary defect:
o arrested development
o ensuing hypoplasia of the mandible, producing
characteristic “bird facies” and preventing normal descent of the tongue between the palatal shelves, resulting in cleft palate
o cleft lip does not occur in association with the cleft palate
PIERRE ROBIN SYNDROME
→ respiratory difficulty
o most important result of jaw malformation
o it is suggested that failure of support of tongue musculature
occurs because of micrognathia, allowing tongue to fall
down and backward, partially obstructing the epiglottis
PIERRE ROBIN SYNDROME
→ other systemic defects:
o congenital heart defects
o skeletal anomalies
o ocular lesions
o mental retardation
PIERRE ROBIN SYNDROME
Marfan-Achard syndrome
MARFAN SYNDROME
Arachnodactyly
MARFAN SYNDROME
→ hereditary disease through an autosomal dominant trait
→ disease of connective tissue related to defective organization of
collagen
MARFAN SYNDROME
o collagen is abnormally soluble
o reduced amounts of chemically stable forms of
intermolecular cross-links
o attenuation of non-enzymatic steps in maturation of
collagen
MARFAN SYNDROME
→ excessive length of the tubular bones resulting in dolichostenomelia or disproportionately long thin extremities and arachnodactyly or spidery fingers
→ shape of skull and face is long and narrow
CLINICAL FEATURES
other features:
o hyperextensibility of joints with habitual dislocations
o kyphosis or scoliosis
o flatfoot
MARFAN SYNDROME
o bilateral ectopia lentis
o myopia
o aortic aneurysm
o aortic regurgitation
MARFAN SYNDROME
vascular defects
o enlargement of the heart
MARFAN SYNDROME
Trisomy 21 syndrome, Mongolism
DOWN SYNDROME
associated with subnormal mentality
DOWN SYNDROME
causative factors:
o advanced maternal age
o uterine and placental abnormalities
o chromosomal aberration
DOWN SYNDROME
3 forms of DOWN SYNDROME
Typical type
Translocation Type
Chromosomal Mosaicism
47 chromosomes
A. Typical type
B. Translocation Type
C. Chromosomal Mosaicism
A
46 chromosomes
A. Typical type
B. Translocation Type
C. Chromosomal Mosaicism
B
→ more commonly born to mothers under 30
years of age
→ incidence of mongolism in subsequent
siblings may greatly increase in such
instances
→ rare in mothers over 40 years of age
A. Typical type
B. Translocation Type
C. Chromosomal Mosaicism
B
affected individuals have an increased incidence of acute leukemia, especially children
DOWN SYNDROME
CLINICAL FEATURES:
flat face
large anterior fontanel
open sutures
small, slanting eyes with epicanthal folds
DOWN SYNDROME
→ open mouth
→ frequent prognathism
→ sexual underdevelopment
→ cardiac abnormalities
→ hypermobility of the joints
DOWN SYNDROME
Marble Bone disease
OSTEOPETROSIS
ALbers-Schonberg disease
OSTEOPETROSIS
Osteosclerosis Fragilis Generalisata
OSTEOPETROSIS
subdivided into:
o benign dominantly inherited form
o malignant recessively inherited form
OSTEOPETROSIS
more severe form of the disease
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
Present at birth and early life
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
→ the earlier the disease appears, the more serious it is
→ affected infants are usually stillborn or die after birth
A. MALIGNANT RECESSIVE OSTEOPETROSIS
B. BENIGN DOMINANT OSTEOPETROSIS
A
