Disease

Osteogenesis Imperfecta Brittle Bones

Etiology Hereditary. Abnormal synthesis of type 1 collagen Type 1& 3: AD Type 2: AR Type 3: teeth involvement

Clinical General symptoms: Recurrent fractures generalized osteopenia Thin sclera with blue hue Hypermobility joint laxity Deafness: inner and middle ear bone Bruising thin dermis Type 1 Fractures Blue sclera Hearling loss Little progress after puberty Type 2 Stillborn, crushed into bones Type 3 Variable severity Fractures Skeletal deformities Normal sclera Sometimes DI

Osteopetrosis Marble bone/AlbersSchonberg disease

Hereditary: decrease osteoclast fxn Decreased resorption and thick sclerotic bone.

Cleidocranial dysplasia

AD disorder of bony development

Achondroplasia

Most common form of inherited dwarfism AD, affects FGF receptor 3 on chromosome 4 Inhibits cartilage synthesis at epiphyseal growth plate Decreased endochondral bone Premature ossification of growth plates Rare, unencapsulated, M =F, young adults Differential: diagnosed from ossifying fibroma wellcircumscribed borders. Complication: osteosarcoma

5 symptoms: Increased bone density and cortex thickening. Bone thickening fractures easy Myelophthistic process medullary fibrosis, extramedullary hematopoeisis CN compression: blind, deaf, palsies Hydrocephalus: CSF obstruction Oral Symptoms Multiple supernumerary, unerupted, Bones Affected Jaws, bones and clavicle malaigned teeth Absent collar bones, depressed nasal bridge Heavy protruding jaws Prominent frontal, parietal, occipital bones with open sutures Affected bones: short and thick long bones Spared bones: cranial and vertebral normal intelligence and life span Pituitary dwarfism: undersecretion of growth hormone Facial features Forehead bulging, Frontal bossing, Saddle nose, Mandibular prognathism Oral: Delayed eruption and shedding Small clinical crown and roots Smaller dental arch malocclusion and underdeveloped mandible. Treatment: surgical recontouring Radiation therapy possible malignant transformation Usually stops after puberty. Radiographically: Radiopaque mass, irregular borders: ground/frosted glass Chinese character

Fibrous Dysplasia

Monostotic

Most common form 80% One bone: ribs and femur are most common Craniofacial fibrous dysplasia: more than maxilla involved. Monostotic fibrous dysplasia of the jaw Maxilla: 80% Bone expansion and deformity Tooth displacement Thickening of skull base

Polyostotic 1st decade, females before puberty McCune-Albright

Segmental distribution of involved bones Long bones, face, clavicles, pelvic bones Initial sign: limp, pain and fracture on affected side Triad: polyostotic, caf-au-lait, precocious puberty Frequent bone fractures Always involve mandible either alone or with maxilla Bilateral symmetrical swelling of 1/ both jaws Very round face and regional lymphadenopathy Less noticeable as child ages Upward eyes Intraoral: Premature primary exfoliation Delayed/abnormal eruption of permanent Pathognomonic: perivascular collagen condensation

COMPLICATION OSTEOSARCOMA, mainly polyostotic

Cherubism

AD disorder of the jaws in children Age 5, M>F

Treatment Cautious waiting, should stabilizes after puberty No treatment Dont use radiation therapy Radiographic Multiple, well defined radiolucency Soap-bubble

Inherited and Developmental BONE diseases 1. Cherubism: bilateral intraosseous fibrous proliferation soon after birth (a) Self-limiting, bony lesions regress with minor deformity at puberty 2. Cleidocranial dysostosis: (a) Affects skull, teeth, jaws, and shoulder girdle (b) Delayed eruption of permanent (c) Delayed fontanelle closure (d) High palate, absent clavicles (e) Decreased cellular cementum (f) Numerous impacted supernumerary in incisor and premolar area 3. Osteopetrosis: (a) If diagnosed in a child = MOST SEVERE rarely survive adolescence (b) Death from infection / anemia (c) Classic bone within bone due to greatly thickened cortices and medullary space obliteration 4. Cleidocranial dysplasia (a) Large head and brachycephalic (b) Broad-based nose with depressed nasal bridge 5. Fibrous dysplasia: SMOOTH expansion of alveolar ridge and adjacent bone