Genetic Abnormalities (lab) Flashcards
Autosomal-dominant, benign, Males: 100%, Females 50-75%
Affects the jaw only, bilateral symmetric swelling of the lower third ofthe face, marked fullness of the jaws, cheeks and upwardly gazing eyes
SH3BP2 mutation, self-limiting
Cherubism
Premature exfoliaion of the primary dentition with permanent teeth missing or malformed
Serum calcium and phosphorus levels are within normal limits, alkaline phosphatase levels may be elevated
Cherubism
Aka as albers-schonberg disease, is a rare hereditary bone condition clinically characterized by a generalized symmetric increase in skeletal density die to defective bone resorption
Osteopetrosis
Three types of osteopetrosis
Infantile-malignant form, autosomal-recessive
Intermediate autosomal-recessive type
Autosomal-dominant
Reduced osteoclastic acitvity
Lack of acid secretion by osteoclasts
Osteopetrosis
Clinical/dental features
Bone pain
Cranial nerve compression
Pathologic fracture
Delayed dental eruption
Congenitaly absen, unerupted and malformed
Osteopetrosis
Decrease in osteoclastic function and a compensatory increase in the number of osteoclasts
Failure to develop lamellar structure
Osteopetrois
Treatment of osteopetrosis
Stem cell treatment
RANKL replacement therapy
Denosumab administration
Bone marrow transplantation
Clinical features
Bone fragility
Skull base deformities
Blue sclera
Hearing loss
Dentinogenesis imperfecta
Wormian bones (skull)
Laxity of skin and ligaments
Osteogenesis imperfecta
Four distinct types
Result of inborn error of collagen metabolism
COL IAI, COL IA2
Osteogenesis imperfecta
Aplasia or hypoplasia of the clavicles, craniofacial malformation, and supernumerary/unerupted teeth
Autosomal dominant: RUNX2, regulator of bone differentiation
Cleidocranial dysplasia
Autosomal-dominant ___, regulator of bone differentiation
RUNX2
Dental manifestation:
- exfoliation of primary teeth is prolonged
- eruption is delayed
- supernumerary teeth, dentigerous cyst
- taurodontia and hypoplastic enamel
Cleidocranial dysplasia
Treacher collins syndrome
Mandibulofacial dysostosis
Affects structure of the first brancial arch
Convex facial profile with a prominent nose and retrusive chin
TCOFI
Mandibulofacial dysostosis
Oral findings:
Cleft palate (30%)
Macrostomia (15%)
High arched palate and dental malocclusion
Mandibular hypoplasia
Midface deficiency
Mandibulofacial dysostosis
Treatment of mandibulofacial dysostosis or treacher collins syndrome
Surgical correction of deformities
Micrognathis, glossoptosis, high-arched or cleft palate
Mandibular retrognathia and hypoplasia
Airway obstruction and hypoxia
Pierre robin syndrome
GAD67, PVRL1, SOX9
Pierre robin syndrome
Due to genetically influence metabolic growth disturbance of the maxilla and mandible
Pierre robin syndrome
A normal profile is often achieved between 4 and 6 years of age
Pierre robin syndrome
Connective tissue disorder characterized by skeletal, cardiovascular, and ocular system
Marfan’s syndrome
Autosomal-dominant of marfan’s syndrome
FBN1
Tall, slender stature, disappropriate arms and limbs
Mitral valve prolapse
Dislocation of the lesn
Marfan’s syndrome
