Metabolic & Genetic Jaw Diseases Flashcards
Cleft palate usually occurs starting in the _____ week of embryonic life whereas cleft lip usually issues starting in the ______ week.
8th week, 6th week
A child with achondroplasia has a:
Relatively normal torso and short arms and legs
Type I dentinogenesis imperfecta is associated with which genetic disease?
Osteogenesis imperfecta
Clinical characteristic of OI: extreme fragility and porosity of the bones with proneness to fracture. Other features?:
Pale blue sclera
Deafness due to otosclerosis
Abnormal teeth
Loose joints
Low muscle tone
Triangular face
Tendency toward spinal curvature
Most common and mildest form of OI; blue sclera throughout life
Type I OI
Most severe form resulting in multiple fractures just from birth process; not compatible with life
Type II OI
Most severe form beyond the perinatal period
Type III OI
Mild to moderately severe bone fragility
Type IV OI
Hyphosphatasia is a genetic metabolic disorder of bone mineralization caused by a deficiency in:
Alkaline phosphatase
An enzyme that is essential to the production of bone tissue.
Alkaline phosphatase
Teeth display enlarged pulp chambers and pulp canals, deficient root development as well as alveolar bone loss.
Hypophosphatasia
Pituitary adenoma in 9 year old will most likely lead to:
Gigantism
Tumor prior to adolescence (nonfusion of epiphyses)
Gigantism
Tumor after adolescence (fusion of epiphyses)
Acromegaly
X-linked recessive condition characterized by abnormal development of the skin and associated structures (hair, nails, teeth and sweat glands). Involves all structures that are derived from the ectoderm.
Ectodermal dysplasia
Clinical findings include:
Hypotrichosis
Anhidrosis ( no sweat glands leading to heat intolerance)
Depressed bridge of nose
Lack of sweat glands
Child appears much older than what she is
Ectodermal dysplasia
Characterized by: hypoplasia or aplasia of the clavicles, cranial bossing, ocular hypertelorism, retained primary teeth, malaligned teeth, presence of multiple supernumerary teeth and unerupted teeth
Cleidocranial dysplasia
An inherited disorder that presents the following in the neonates: severe micrognathia, mandibular hypoplasia, severe glossoptosis, and high arched or cleft palate; also characterized by respiratory problems.
Pierre Robin Syndrome
Marked by hyperpigmentation of the lips and sometimes other parts of the face, hands and feet followed by the development of benign polyps called hamartomas throughout the intestines (small intestine); risk of malignancy is 18x higher than normal.
Peutz-Jeghers Syndrome
Other name for osteopetrosis
Albers-Schonberg disease or Marble bone disease
An absence of physiologic bone resorption owing to reduced osteoclastic activity. Manifests itself in skeletal disturbances including bone cavity occlusion, decreased hematopoietic activity and growth retardation. Bone pain and fractures are the most common.
Osteopetrosis
Signs and symptoms of Paget’s disease:
Hypercementosis
Enlarged cranium
Headaches
Hearing loss
Also called as osteitis deformans
Paget’s disease of bone
Name this disease:
Maxilla is affected more than mandible
Pt. Complains Max. Denture Not fitting
Hypercementosis of tooth roots
Increasing size of hats
“Cotton wool” appearance of rx.
Increased serum alkaline phosphatase
Tx:?
Paget’s disease of bone
Calcitonin and bisphosphonates
This condition exhibits all of the ff. Characteristics:
Histologically close to central giant cell granuloma
Clinically presents as non-tender swelllings
Tx. is frequent monitoring
Most cases occur in mandible
Affects males than females
Cherubism
Pathognomonic for cherubism
Perivascular collagen cuffing
Radiograohic sign for cherubism
Multiple, well-defined multilocular radiolucencies
A deficiency of parathyroid hormone can be treated with:
Vitamin D
Most important consequence of hypoparathyroidism; ionized calcium level drops to less than 2.5-3mg/100 mL.
Hypocalcemia
Clinical manifestation of hypocalcemia?
Tetany
Distinct characteristic of hypoparathyroidism?
Chvostek sign (twitching of facial muscles)
Dental manifestation of hypoparathyroidism?
Delayed eruption
Pitting enamel hypoplasia
Blunted root apices
Tx: vitamin D
Graves’ disease is the most acute and severe form of hyperthyroidism caused by the autoimmune disease targeting which receptor?
TSH receptor
One or more nodules or lumps in the thyroid may become overactive, a condition known as:
Nodular goiter or Plummer disease
Its primary role is to stimulate cellular metabolism, growth and differentiation of all tissues.
Thyroxin
Most common form of hyperthyroidism occurs most frequently in women under 50
Grave’s disease
Manifests:
Goiter
Exophthalmos
Thickened skin over shin area
Toxic nodular goiter; effects both genders usually over 50
Plummer disease
Manifests:
Exophthalmos
May present with only cardiac disease
Three main types of thyroiditis:
Hashimoto’s
Subacute granulomatous
Silent lymphocytic
Severe hypothyroidism is called ______ in children, whereas it is called ______ in adults.
Cretinism, myxedema
Dental findings in child with hypothyroidism:
Underdeveloped mandible with an overdeveloped maxilla
Enlarged tongue (leads to malocclusion)
Delayed eruption of teeth
Deciduous teeth being retained longer
The clinical feature of the primary form of which disease is classically described as “stones, bones, groans, and moans?”
Hyperparathyroidism
Patients with hyperparathyroidism caused by renal failure (renal osteodystrophy) may develop remarkable jaw enlargement with a ________ rx appearance.
Ground-glass
Histological feature of hyperparathyroidism?
Multinucleated giant cells
Hemosidirin
Extravasated rbc
Patients with fibrosis of the brown tumors may experience the most severe manifestation in the skeleton termed:
Osteitis fibrosca cystica (Von Recklinghausen’s disease of bone)
Difficulty with mastication and swallowing
Higher incidence of periodontal diseases and caries
Attrition of the teeth
Are manifestations of what condition?
Cerebral palsy
Oral manifestations of Down syndrome:
Mandibular prognathism
Increased incidence of periodontal disease
Delayed eruption of teeth
Higher incidence of congenitally missing teeth
Malooclusion
Enamel dysplasia
What disease is associated with a decrease in caries ?
Cystic fibrosis
A congenital metabolic disorder that causes the exocrine glands to produce abnormal secretions, resulting in several symptoms.. the most important of which affect the digestive tract and lungs.
Cystic fibrosis
Symptoms of Cystic Fibrosis?
Poor growth despite good appetite
Malabsorption and foul, bulky stools (steatorrhea)
Chronic bronchitis with cough
Recurrent pneumonia
Clubbing of fingers and toes
Barrel-chested appearance
Where in the oral cavity is malignant melanoma most commonly found?
Palate and maxillary gingiva
Most malignant skin cancer?
Melanoma
A malignant, epithelial cel tumor that characteristically begins as papule and enlarges peripherally, developing a central that erodes, crusts, and bleeds.
Basal cell carcinoma
BCC primary cause:
Sun or x-ray exposure
Risk factors of BCC:
Childhood sun exposure
Blistering sunburns
Fair skin
Blue eyes
Blonde
Red hair
