Northern Italy and Japan Rare in Chinese and blacks First born, breech del, Unilateral > bilateral Left > right
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SURGERY NEWLIFE
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CONGENITAL DEFORMITIES Pathology
Abnormalities present at birth birth Etiology Etiology
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1. Genetic influences influences chromosome anomalies multiple, severe, incompatible with life downs syndrome/ trisomy 21 Single gene disorder
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Genetic mutation
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2. Intrauterine Intrauterine Drugs, infection, irradiation Depends on stage of fetal development
3. Combined genetic and environmental Congenital Dislocation of the Hip/ Developmental Dysplasia of the Hip Hip
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Dislocatable/congenital hip Dislocatable/congenital dysplasia -1/100 -10% - progress to true dislocation
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Dislocated rare Irreducible Later in childhood Congenital subluxation Acetabular dysplasia Teratologic hip dislocation Rare,severe, pathologic changes of advanced disloc. –
Pathologic changes vary with age Elongated ligamentum teres Slightly increased femoral anteversion Acetabulum becomes shallow/ roof sloping Femoral head – upward and backward, underdevelopment, flattening Capsule – elongated, thick and fibrous, hourglass shape Muscles – (adductors)shortened (adductors)shortened and contracted Secondary acet- developed on the ilium Pelvis – underdeveloped on the affected side; forward tilting Postural deviation of the lumbar spine toward the affected side; Increase of lordosis
Clinical Features Features Neonatal period IDENTIFY DISLOCATABLE HIP BARLOWS TEST ORTOLANIS TEST
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Infancy Asymptomatic Asymmetry of thigh folds Greater trochanter is prominent Bilateral dislocation Each step patient lurch toward the
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weight bearing side Wide perineum, broad buttocks, transverse gluteal fold is altered Increased lumbar lordosis, protrusion of the abdomen (+) Barlows and Ortolani sign ( early stage) Limited abduction(< 45 degrees) Galleazi sign Telescoping/ piston mobility Slight delay in walking
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Abductor lurch – may not be obvious Trendelenburg test
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Roentgenographic picture picture
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3 classic signs Delayed growth of the ossification center of the capital epiphysis Upward and outward displacement of the femoral head Obliquity of the acetabular –
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roof Increased acetabular index (>30 deg) Decreased CE angle Disrupted Shentons line Head located located at the superior lateral quadrant
Dynamic ultrasonography ultrasonography before ossification of femoral head Acetabular dysplasia Capsular laxity Assessing reduction Arthrography Assess reduction Treatment
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Fist 6 mos Conservative/ non surgical Frejka pillow, pavlik harness Plaster cast 3 to 6 mos in cast or splint Over 6 mos Traction, close reduction and casting
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Surgical of adductor muscles,section close reduction and casting Open reduction and casting . 18 mos to 2 years Open reduction and casting Open reduction,osteotomy( femoral shortening or innominate osteotomy) and casting 2 to 6 years old old Clinical picture
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Absent Limp stability tests
Shortening Asymmetric thigh crease Telescoping (absent in subluxation) (+) trendelenburg test Treatment Traction, adductor tenotomy and open reduction
Talus- shortened and deviated medially, wedge shape,externally rotated Navicular bone displaced medially Forefoot – medially Subtalar surfaces- medially,
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Varus osteotomy Innonimate osteotomy
varus and equinus Calcaneuspoints downward and medially, Tibia –externally rotated Proliferative bony changes bursa
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Congenital Talipes Talipes
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Talipes
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talus – – ankle ; pes- foot
Four Cardinal Position of the Foot 1. Varus/ inversion inversion
Roentgenographic pictures pictures
Little value in newborn Evaluate treatment Kite`s angle – line drawn on
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2. Valgus /eversion
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3. Equinus/ plantar flexion
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4. Calcaneus/ dorsiflexion
long axes of the talus and calcaneus on AP view – 20 – 30 deg Lateral view in maximum dorsiflexion >35 deg Angle of Meary 0 – 20 deg
Etiology Asso with other disorders Isolated(idiopathic) 20%-hereditary Pathogenesis Arrest or anomalous development Failure of inward rotation of the foot Muscle imbalance –
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Incidence 1/1000 birth 2x in boys > 50% bilateral R = L Pathology Achilles tendon shortened,,anterior and posterior tendons contracted, anomalous tendon insertion Ligaments and capsule on the medial side shortened, –
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Clinical picture Heel – drawn up Foot – inverted, adducted, concave medial border Diagnosis Paralysis, myelodysplasia, cerebral palsy, old injury to distal tibial physis,
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osteomyelitis,fracture, muscular dystrophy
Evans – resection of calcaneo-cuboid joint;surgiacl release of talonavicular joint Triple arthrodesis – subtalar,calcaneocuboid,talonavicular joint More than ten years
Prognosis Flexibility Early treatment Treatment Ponsetti technique cavus deformity must be corrected prior to correcting the other deformities;
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- forefoot is supinated and the first metatarsal is dorsiflexed; to correct the varus and adduction, the foot in supination is abducted while counterpressure is applied with the thumb against the head of the talus; casting involves a toe-togroin plaster cast w/ knee flexed 90 degrees and the foot in maximum external rotation;
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old Talipes Calcaneovalgus
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correction of equinus: of tendon Tenotomy of achilles - Maintenance of reduction Dennis brown splint method Kites method Serial gentle manipulation and casting until a position of overcorrection is obtained.held in correction for 3-4 mos.,fitted with clubfoot shoes attached to a Dennis brown splint Reduction of talonavicular joint –
Mild; self limited Dorsiflexed ankle; eversion of the foot Lenghtening of TA Excessive pronation treatment No treatment Gentle manipulation Light corrective cast Dennis brown splint –
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Metatarsus Varus Varus
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key to success Rocker bottom deformity – hindfoot in equinus, forefoot dorsiflexion Postero-medial soft tissue release 6 mos to two years old Lengthening of TA, posterior tibial tendon, FHL, FDL Release of posterior capsule, medial structures
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Dwyer Osteotomy- calcaneus
in the transmetatarsal joint 1/3 of clubfoot? Metatarsus primus adductus Sometimes asso with clubfoot, calcaneo valgus of the opposite extremity Residual of clubfoot deformity Acquired (asso with valgus of hindfoot) Cause of pigeon toe Treatment Manipulation; casting; surgical –
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Adduction of forefoot
Congenital Vertical Talus Talus
Excessive plantar flexion of the talus Calcaneus- equinus position Talonavicular and calcaneocuboid calcaneocuboid
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dislocated dorsally Longitudinal arch is reversed Forefoot is dorsiflexed
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Simulates rocker bottom deformity Treatment Serial casting Surgical Surgical Subtalar arthrodesis -. 10 years old –
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Congenital Clubhand Clubhand
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Absence of radius Complete / partial Boys; bilateral(50%); right(2x) Radial dev. of the hand; shortening of the f/a Thumb ray, radial carpal bone(navicular),muscle controlling the thumb, radial artery and nerve – absent Elbow often abnormal; hand is useful –
deformity PIP of little finger- most common Kirner’s deformity- dorsalulnar curvature of the distal phalanx Clinodactyly –curvature in the radioulnar plane Syndactyly – most common –
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middle ring most common Simple – soft tissue; complex – bony fusion Polydactyly –
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Preaxial- thumb; postaxial small finger; central
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Macrodactyly – digital enlargement Thumb hypoplasia – undergrowth
Arthrogryposis Multiplex Congenita Congenita
Cervical muscles is shortened Abduction of shoulder is greatly affected, glenohumeral motion not affected affected Diagnosis P.E, Xray Vs paralysis of serratus anterior,obstetrical paralysis
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Incomplete congenital fibrous ankylosis of joints Trunk is spared Symmetric,mild to severe Unknown etiology; not hereditary
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Pathologic changes, mostly extraarticular Joint capsules – thickened,contracted Muscles decreased in bulk, absent, replaced by fat Defective formation of the anterior horn cells Clinical picture Treatment
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Treatment Postural training, exercise Surgical intervention-before 5 yrs old
Congenital Synostosis of the Cervical Spine (Klippel-Feil Syndrome) Syndrome)
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Recurrence, unsatisfactory unsatisfactory Improve functional status status -Obtain stable well-aligned joints
Arrest of development Fusion of all or of only the lower cervical spine into one homogenous mass or bone Lamina not developed – spina bifida Classic triad Short web neck line Low posterior hair Limited cervical movement Treatment symptomatic Plastic surgery
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-Cast, extensive soft tissue release,arthrodesis
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Cleidocranial Dysostosis Dysostosis Partial/complete absence of clavicle Exaggerated development of the transverse diameter of the cranium with delayed ossification of the fontanels Clinical presentation Treatment
CONGENITAL ANOMALIES ANOMALIES GENERAL AFFECTION OF BONES
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Congenital High Scapula (Sprengel s Deformity) Deformity) ’
Scapula elevated 1-4 inches Inferior angle rotated medially Fails to descend to its normal position Asso with other cong. Anomalies Scapula – small;; vertical length – decreased ;,width- increased May unite with lower cervical vertebra –omovertebral bone
Unknown WOLLF`S LAW Every change in the form and function of bones or in their function alone is followed by certain definite changes in their internal architecture and equally definite changes in their external formation in accordance with mathematical laws. Bone hypertrophy – bone formation > resorption
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Bone atrophy (osteoporosis) resorption > formation
Achondroplasia Achondroplasia
2. Osteopathia striata striata Coarse longitudinal striation in cancellous bone Bony contour is normal •
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Most common form of short-limb dwarfism Congenital, inherited, autosomal dominant Enchondral osteogenesis is retarded Membranous osteogenesis is unaffected Pathologic process begins early in intra uterine life – slowed, disorderly development of epiphyseal cartilage Retardation of longitudinal growth of long bones Changes can can be recognized as early as 3 mos of intra uterine life by xray.
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3. Osteopoikilosis Osteopoikilosis Small and scattered area of condensation-spotted •
appearance metaphysis in the Asso with small whitish skin lesion AD
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Progressive myositis ossificans/fibrodysplasia ossificans progressiva Transformation of muscles and fascia into immobile structures of bony consistency AD, male > female, Begins early childhood
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Multiple Exostosis/ diaphyseal aclasis aclasis
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Multiple, osteocartilaginous masses Metaphyseal, long bones Broadening of metaphyses, shortening and bowing of of the shaft Histologically a normal bone with a cartilaginous cap Continues to enlarge by enchondral oss Arise from epiphyseal plate Excision if symptomatic Malignant degeneration
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Under development and malalignment of great toes Heralded by the appearance of painful, tender, subcutaneous masses – regress, fixed – undergo ossification Neck and back are first involved Bedridden, intercurrent infection – death Steroids, diphosphonate compounds
Osteogenesis Imperfecta (Fragilitas ostium/brittle bones) bones) Osteosclerosis Regions of increased bone density density Unknown cause,familial/hereditary Excessive fluoride intake •
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1. Osteopetrosis(Albers-Schonberg dse,marble bones) bones) Failure of osteoclastic resorption – narrowed medullary canal,splayed metaphysis Early death in AR Bone within bone appearance Treatment of complications ,bone marrow transplant •
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Hereditary,generalized connective tissue disorder osteoporosis, with generalized thinning of the cortex, decreased diameter of the shaft, coarse trabeculation Unknown etiology, AD,AR Impaired maturation of the collagen fibers( type I) Affects - ligaments, scleras, inner ear, skin Woven, increased bone turnover, excessive bone formation and resorption taking place at all ages
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Osteocytes abnormally plentiful, lacunae are enlarged
Types of OI OI Type AD/AR sclerae
Features Features
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preschool age (tarda)
AD
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A teeth involved, B not affected II
AR
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III AR N fractures at birth, progressive short stature IV AD N mild form, normal hearing, IV-A teeth involved, IV-B not invloved Treatment symptomatic; corrective osteotomies, medullary nailing Marfans Syndrome(Arachnodactily) Syndrome(Arachnodactily)
AFFECTIONS ASSOCIATED WITH DIETARY OR METABOLIC ABNORMALITIES AVITAMINOSIS AND HYPERVITAMINOSIS
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VIT A
Effect on osteoblast, osteoclast, chondroblast of growing bone Pattern of bone growththick/short bones Hypervitaminosis – elevated periosteum-subperiosteal calcification, pain, irritability Ulna and metatersals – most commonly involved VIT C Regulating formation of intercellular substance Conversion of prolene to hydroxyprolene – collagen formation Lack of -Interfers with osteoblastic activity Decreased formation of osteoid or bone matrix Defective capillary wall formation Hemorrhage Scurvy Vitamin D
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AD Bones- assymetry of the skull,long fingers,scoliosis, coxa vara Joints- hypermobile,lax Eyes-Lens dislocation cardiovascular (dissecting aneurysm) Treatment directed at individual deformity hormonal to prevent excessive growth
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Mucopolysaccharidoses Lysosomal storage dse Enzymatic deficiency in the lysozymes Intracellular accumulation of excessive amounts of mucopolysaccharides Excretion of abnormal amounts of mucopolysaccharides mucopolysaccha rides in urine Defective bone growth, joint contractures, hepatosplenomegaly, mental retardation, corneal clouding, cardiovascular cardiovascular abnormalities
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Rickets (infantile/nutritional rickets) rickets) Dietary deficiency/malabsorption deficiency/malabsorption defects Subnormal calcification with relative increase of osteoid tissue Increase plasticity of bone that could not withstand normal stresses
Increased bone resorption- sec hyperparathyroidism Widened osteoid seams, thinned cortices, soft bones Heart shape pelvis, shortened/telescoped spine, bowing of tibia and femur Dxes – iliac bone biopsy –
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Disordered or delayed ossification Epiphyseal cartilage cells proliferate and hypertrophy but there is failure of mineralization Widening and overgrowth of growth plate Normal/ low calcium content,decrease phosphorus, increase alkaline phosphatase
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histomorphometric studiesquantification of amount of osteoid/ unmeniralized matrix on trabecular bone Pain(shooting)/tenderness – pelvis, back or hips Muscular weakness, deformities,pathologic fractures Xray Loosers zone/pseudofractures – pathologic/fatigue Treatment Directed toward the –
Radiographic/clinical findings findings
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Metaphysis - Widened,curved with irregular margin
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Epiphysis - Widened ,obscurely outlined, contains one or more areas of indistinct oss., mottled appearance Shaft – thickened, fracture line, abnormal curvature Recognized near the end of first year Lethargy, weakness, tetany Rachitic rosary Harrissons groove Craniotabes Bowleg, knock knee,coxa vara,scoliosis Treatment Prevention- vit D(calciferol), –
phosphorus, calcium, exposure to sun Proper posture, bracing surgical (osteotomy)
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Osteomalacia (adult rickets) rickets) Excess of unmeniralized bone matrix Gastrointestinal malabsorption, anticonvulsant therapy, excessive intake of chelating agent, decreased sunlight exposure, dietary deficiency Low/normal Ca, decreased P, alk phos and parathyroid hormone –
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underlying source Vit D- 5000 units daily Calcitriol - .25 -1microgram daily Calcuim -3grams daily
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Osteomalacia associated with renal disorders disorders Hypophosphatemia, refractory to Hypophosphatemia, treatment with ordinary dosage of vit.D, dysfunction of renal tubules Hypophospha Hypophosphatemic temic rickets
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Sex linked dominant Defect in renal absorption of P Serum Ca and alk phos is normal, serum P is low Tx – oral P 2-4 g, high dose vit D Vit D dependent rickets AR,defect in conversion of 25OH,vit D – 1,25 dihydroxy form Hypercalcemia, phosphaturia, aminoaciduria, Increase PTH Hypophosphatasia
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Gradual resorption of bone trabeculae and a replacement of bone and marrow by fibrous tissue Thin lamellae,scalloped surfaces,numerous osteoclast Hemorrhagic cyst with
- AR,extremely low alkaline phosphatase,fatal phosphatase,fa tal in infantile form Renal osteodystrophy Chronic failure in adults/children, 5 yrs after the onset of renal failure Low/N- calcium, high P and alk phos
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Deposition soft tissues of calcium salts in
Scurvy Scurvy
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numerous tumors) giant cells(brown Areas new bone formation, weakened bone, bowing/deformity, pathologic fractures Clinical picture Women, middle ages, General lassitude, muscular hypotonia Treatment Parathyroidectomy Prevention of deformity Phosphates/alendronates –
Deficient in takeof Vit C/ascorbic acid- 4- 6 mos Changes in mesenchymal tissues of the body Osteoporosis and depressed oteoblastic activity Defective bone formation on the metaphyseal side of the growth plate Scorbutic line – calcified zone of provisional calcification Separation of epiphysis junction at the epiphyseal-metaphyeal Subperiosteal hemorrhage Clinical appearance 6-18 mos Irritability, poor feeding, pain/ poor wound healing, hemorrhage, petechiae Treatment prevention Vit C symptomatic –
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Infantile Cortical Hyperostosis (Caffeys Dse) Dse) Self limited Painful swelling and subperiosteal new bone formation Shaft of long bones and mandible Less than 6 mos old Boys>girls Irritability and swelling; tender wooden induration Ruleout – battered child,osteomyelitis, hyprvitaminosis A No treatment,surgery contraindicated,steroids contraindicated,s teroids in severe form Histiocytosis (Reticuloendotheliosis) (Reticuloendotheliosis)
Excessive amounts of parathyroid hormone Generalized osteoporosis and localized areas of bone destruction Increase serum calcium and alk phos; phosphorus decrease/increase Increase urinary calcium, hydroxyproline Nephrolithiasis and renal insufficiency Intestinal/psychiatric disturbances Pathology
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Eosinophilic granuloma Benign, solitary, children, young adult, males Circumscribed area of bone destruction, 1 – 4 cm, sharply punched out appearance Vertebral plana –
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Hemorrhagic granulation tissue, (mic)- large
mononuclears, collection of eosinophils, multinuclear giants cells Disappear, excision, curettage, bone grafting Hand-Schullers-C Hand-Schullers-Christian hristian dse Multiple bone defects Skull, skin, tendons, viscera –
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Bone is replaced by abnormal proliferation of fibro-osseous tissues polyostotic Girls, later years of growth period, predominantly unilateral, long bones Albrights syndrome with caf é au lait spots, endocrine
bone disorder Cancellous Gray lesions, soft and gritty; (mic) fibroblastic matrix embedded in scattered spicules of immature bone, (+)osteoid Xray- radioluscent areas of ground glass appearance,thinned appearance,thinne d cortices, deformed contours ( Shepherd crook), pathologic fractures Curettag,bone grafting and fixation
Disorderly and excessive proliferation of the cartilage cells in different epiphyseal plates; young to mature chondrocytes Within the metaphysis Vs. exostosis Maybe present at birth but not apparent Failure of resorption during the process of enchondral oss. Myxomatous degeneration;calcification Predominantly on one side of the body- unequal leg length,bowing, angular deformities Enlargement of digits and loss of function Xray – elongated radiolucent areas from epiphyseal line to the metaphysis; directed along the long axis of the bone No specific treatment; osteotomy, limb lengthening Malignant degeneration – Mafucci syndrome( enchondromatosis plus hemangiomas)
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Chronic, one or many skeletal lesion; unknown cause
Chronic skeletal skeletal dse of of middle and late life Begins insidiously, progressive structural changes and typical deformities Mostly asymptomatic Accelerated resorption and excesssive abnormal regeneration During active phase- blood flow to the bone- high output cardiac failure Gradual thickening and bowing of the shaft of the long bones Severe intractable pain, fatigue, stiffness and clumsiness Deformity and enlargement of the bone Kyphosis, barrel chest, Deafness ,tinnitus, impairment of vision Xray – increase in curvature, cortex thickened to 5x, blurred, fluffy appearance, medulla narrowed,greatly increased cranial bones
Increase alkaline phos,urine hydoxyproline,hypercalcemia Diffvs hyperparathyroidism hyperparathyroidism ,metastatic Ca, osteomalacia, syphilis Treatment Serial obsrvation Calcitonin,
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piphosphonates,mothramyci n Surgical Good prognosis Development of malignancy osteogeniccarcinoma – osteogeniccarcinoma
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Senile Osteoporosis Osteoporosis
Acquisition of bone mass up to 40 yrs old Accentuation of physiologic loss of bone mass Senile/postmenopausal
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stature, white osteoporosis Women, small Smokers ,heavy drinkers Sedentary Commonest metabolic affectation of bone Cancellous bone is greatly affected Quantitative not a qualitative defect Develops when bone that is being lost by normal catabolism is not replaced in equal measure by new bone formation Decrease osteoblastic activity Mild prolonged negative calcium balance Decrease absorption, inadequate intake Changes in gonads and adrenal gland Inactivity in old age Deficiency in estrogen – defective protein metabolism Mechanism of Bone Mass Regulation Types Type I – (postmenopausal) (postmenopausal) affects trabecular bone, –
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Type II – (age related) more than 75 yrs old, both trabecular and cortical bone, hipand pelvic fracture Clinical picture Fractures Pain, kyphosis, deformity
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Diagnosis Normal serum Ca, P, alkaline phosphatase Xray- more than 30% bone loss Single photon (appendicular) absorptiometry Dual photon (axial) absorptiometry Quantitative CT scan Dual energy xray absorptiometry (DEXA) Histologic- thinning of trabecuale, decrease size of osteons, enlargement of haversian canal and
Prolonged local pain, swelling,vasomotor instability, trophic changes, diffuse patchy rarefaction and atrophy of the bone after an injury of an extremity or peripheral nerve Trauma is minor;disturbance is greater than the expected from the injury Hands and foot Atrophy develops very rapidly Disturbed function of the sympathetic nerve supply
Vs atrophy of disuse and causalgia Heals spontaneously, Brief splinting; prolonged physical therapy; active exercise Sympatholytic drugs, sympathetic block, ganglionectomy, sympathectomy
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PROVERBS 3:5-6 Trust in the Lord with all your heart and lean not on your own understanding in all your ways acknowledge Him in He will direct your path.