SURGERY

NEWLIFE

CONGENITAL DEFORMITIES

Abnormalities present at birth Etiology

1. Genetic influences chromosome anomalies

multiple, severe, incompatible with life downs syndrome/ trisomy 21

Single gene disorder Genetic mutation

2. Intrauterine Drugs, infection, irradiation Depends on stage of fetal

development3. Combined genetic and

environmental

Congenital Dislocation of the Hip/ Developmental Dysplasia of the Hip

• Dislocatable/congenital hip dysplasia

-1/100-10% - progress to true dislocation

• Dislocated– rare

• Irreducible– Later in childhood

• Congenital subluxation• Acetabular dysplasia• Teratologic hip dislocation

– Rare,severe, pathologic changes of advanced disloc.

Incidence /etiology

• 1 – 2/ 1000• Girls 5x more affected• Ligamentous laxity, twins, • parents with dislocated hip

• Northern Italy and Japan• Rare in Chinese and blacks • First born, breech del, • Unilateral > bilateral• Left > right

Pathology

• 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 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• Neonatal period

– IDENTIFY DISLOCATABLE HIP– BARLOWS TEST– ORTOLANIS TEST

Infancy – Asymptomatic– Asymmetry of thigh folds– Greater trochanter is

prominent– Bilateral dislocation

• Each step patient lurch toward the 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– Abductor lurch – may not be

obvious– Trendelenburg test

Roentgenographic picture

• 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 roof

• Increased acetabular index (>30 deg)• Decreased CE angle• Disrupted Shentons line• Head located at the superior lateral

quadrant

• Dynamic ultrasonography– before ossification of femoral

head– Acetabular dysplasia– Capsular laxity– Assessing reduction

• Arthrography– Assess reduction

Treatment

• 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

– Surgical section of adductor muscles, 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• Clinical picture

– Absent stability tests– Limp– Shortening

– Asymmetric thigh crease– Telescoping (absent in

subluxation)– (+) trendelenburg test

• Treatment – Traction, adductor tenotomy

and open reduction– Varus osteotomy – Innonimate osteotomy

Congenital Talipes

Talipes

talus – ankle ; pes- footFour Cardinal Position of the Foot

1. Varus/ inversion2. Valgus /eversion3. Equinus/ plantar flexion4. Calcaneus/ dorsiflexion

Talipes Equinovarus/TEV ( congenital clubfoot)

• Etiology– Asso with other disorders– Isolated(idiopathic)

• 20%-hereditary– Pathogenesis

• Arrest or anomalous development

• Failure of inward rotation of the foot

• Muscle imbalance• 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,

– Talus- shortened and deviated medially, wedge shape,externally rotated

– Navicular bone displaced medially

– Forefoot – medially– Subtalar surfaces- medially,

varus and equinus– Calcaneus- points downward

and medially, – Tibia –externally rotated– Proliferative bony changes– bursa

Roentgenographic pictures

– Little value in newborn– Evaluate treatment– Kite`s angle – line drawn on

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

• Clinical picture– Heel – drawn up– Foot – inverted, adducted,– concave medial border

• Diagnosis– Paralysis, myelodysplasia,

cerebral palsy,– old injury to distal tibial

physis, osteomyelitis,fracture,

– muscular dystrophy• Prognosis

– Flexibility– Early treatment

• Treatment• Ponsetti technique

– cavus deformity must be corrected prior to correcting the other deformities; - 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-to-groin plaster cast w/ knee flexed 90 degrees and the foot in maximum external rotation;

– correction of equinus:• Tenotomy of tendon

of achilles -– Maintenance of reduction

• Dennis brown splint• 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 – 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

– Dwyer Osteotomy- calcaneus– Evans – resection of

calcaneo-cuboid joint;surgiacl release of talonavicular joint

– Triple arthrodesis – subtalar,calcaneo-cuboid,talonavicular joint

• More than ten years old

Talipes Calcaneovalgus

• 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

Metatarsus Varus

• Adduction of forefoot 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

Congenital Vertical Talus

• Excessive plantar flexion of the talus• Calcaneus- equinus position• Talonavicular and calcaneocuboid

– dislocated dorsally• Longitudinal arch is reversed• Forefoot is dorsiflexed• Simulates rocker bottom deformity• Treatment

– Serial casting– Surgical

– Subtalar arthrodesis -. 10 years old

Congenital Clubhand

• 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

– Ulna- bowed– Treatment

• Passive stretching,serial casting,prosthesis, surgical

• Absence of ulna– Elbow instability

Congenital Abnormalities of Fingers and Toes

• Camptodactyly - Digital flexion deformity

– PIP of little finger- most common

– Kirner’s deformity- dorsal-ulnar curvature of the distal phalanx

• Clinodactyly –curvature in the radio-ulnar plane

• Syndactyly – most common middle ring most common

– Simple – soft tissue; complex – bony fusion

• Polydactyly – Preaxial- thumb; postaxial –

small finger; central• Macrodactyly – digital enlargement• Thumb hypoplasia – undergrowth

Arthrogryposis Multiplex Congenita

• Incomplete congenital fibrous ankylosis of joints

• Trunk is spared• Symmetric,mild to severe• Unknown etiology; not hereditary• Pathologic changes, mostly extra-

articular– Joint capsules –

thickened,contracted– Muscles decreased in bulk,

absent, replaced by fat– Defective formation of the

anterior horn cells• Clinical picture

– TreatmentRecurrence, unsatisfactory

Improve functional status

-Obtain stable well-aligned joints

-Cast, extensive soft tissue release,arthrodesis

Cleidocranial 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 High Scapula(Sprengel’s 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• Cervical muscles is shortened• Abduction of shoulder is greatly

affected,• glenohumeral motion not affected• Diagnosis

– P.E, Xray– Vs paralysis of serratus

anterior,obstetrical paralysis • Treatment

– Postural training, exercise– Surgical intervention-before

5 yrs old

Congenital Synostosis of the Cervical Spine (Klippel-Feil Syndrome)

• 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– Low posterior hair line– Limited cervical movement

• Treatment– symptomatic– Plastic surgery–

CONGENITAL ANOMALIES

GENERAL AFFECTION OF BONES

• Hereditary/genetic• Hormonal/endocrine• Enzymatic• Nutritional/ metabolic• 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

• Bone atrophy (osteoporosis) – resorption > formation

Achondroplasia

• 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 be recognized as early as 3 mos of intra uterine life by x-ray.

Multiple Exostosis/ diaphyseal aclasis

• 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

Osteosclerosis

• Regions of increased bone density• Unknown cause,familial/hereditary• Excessive fluoride intake

1. Osteopetrosis(Albers-Schonberg dse,marble bones)

• Failure of osteoclastic resorption – narrowed medullary canal,splayed metaphysis

• Early death in AR• Bone within bone

appearance• Treatment of

complications ,bone marrow transplant

2. Osteopathia striata• Coarse longitudinal striation

in cancellous bone• Bony contour is normal

3. Osteopoikilosis• Small and scattered area of

condensation-spotted appearance in the metaphysis

• Asso with small whitish skin lesion

• AD

Progressive myositis ossificans/fibrodysplasia ossificans progressiva

• Transformation of muscles and fascia into immobile structures of bony consistency

• AD, male > female,• Begins early childhood• 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)

• 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

• Osteocytes abnormally plentiful, lacunae are enlarged

Types of OI

Type AD/AR sclerae Features

I AD blue preschool age (tarda)A teeth involved, B not affected

II AR blue lethalIII AR N fractures at birth, progressive short statureIV AD N mild form, normal hearing, IV-A teeth involved, IV-B not invloved

Treatment symptomatic; corrective osteotomies, medullary nailing

Marfans Syndrome(Arachnodactily)

• 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

Mucopolysaccharidoses

• Lysosomal storage dse• Enzymatic deficiency in the

lysozymes• Intracellular accumulation of

excessive amounts of mucopolysaccharides

• Excretion of abnormal amounts of mucopolysaccharides in urine

• Defective bone growth, joint contractures, hepatosplenomegaly, mental retardation, corneal clouding, cardiovascular abnormalities

AFFECTIONS ASSOCIATED WITH DIETARY OR METABOLIC ABNORMALITIES

AVITAMINOSIS AND HYPERVITAMINOSIS

• VIT A– Effect on osteoblast,

osteoclast, chondroblast of growing bone

– Pattern of bone growth-thick/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

Rickets (infantile/nutritional rickets)

• Dietary deficiency/malabsorption defects

• Subnormal calcification with relative increase of osteoid tissue

• Increase plasticity of bone that could not withstand normal stresses

• 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

Radiographic/clinical findings

• Metaphysis - Widened,curved with irregular margin

• 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)

Osteomalacia (adult 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 – elevated

• 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 – histomorphometric studies-quantification 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

underlying source– Vit D- 5000 units daily– Calcitriol - .25 -1microgram

daily – Calcuim -3grams daily

Osteomalacia associated with renal disorders

• Hypophosphatemia, refractory to treatment with ordinary dosage of vit.D, dysfunction of renal tubules

• Hypophosphatemic rickets– 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 - AR,extremely low alkaline phosphatase,fatal 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

– Deposition of calcium salts in soft tissues

Scurvy

• 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 at the epiphyseal-metaphyeal junction

• Subperiosteal hemorrhage• Clinical appearance 6-18 mos• Irritability, poor feeding, pain/ poor

wound healing, hemorrhage, petechiae

• Treatment– prevention – Vit C– symptomatic

Hyperparathyroidism (generalized osteitis fibrosa cystica)

• 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

– Gradual resorption of bone trabeculae and a replacement of bone and marrow by fibrous tissue

– Thin lamellae,scalloped surfaces,numerous osteoclast

– Hemorrhagic cyst with numerous giant cells(brown tumors)

– 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

Infantile Cortical Hyperostosis(Caffeys 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 in severe form

Histiocytosis (Reticuloendotheliosis)

• Eosinophilic granuloma– Benign, solitary, children,

young adult, males– Circumscribed area of bone

destruction, 1 – 4 cm, sharply punched out appearance

– Vertebral plana– Hemorrhagic granulation

tissue, (mic)- large mononuclears, collection of eosinophils, multinuclear giants cells

– Disappear, excision, curettage, bone grafting

• Hand-Schullers-Christian dse– Multiple bone defects– Skull, skin, tendons, viscera– Diabetis insipidus,

exophthalmos, gingivitis– Pituitary gland involvement;

jaundiced– Fatal; prednisone,

chemotherapy, radiotherapy• Letterer-Siwe dse

– Rapid, progressive,fatal– Liver, spleen, lymph nodes– Anemia, leukopenia ,anemia

Enchondromatosis (Olliers dse, Dyschondroplasia)

• 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)

Fibrous Dysplasia

• Chronic, one or many skeletal lesion; unknown cause

• Bone is replaced by abnormal proliferation of fibro-osseous tissues

• polyostotic

– Girls, later years of growth period, predominantly unilateral, long bones

– Albrights syndrome with café au lait spots, endocrine disorder

– Cancellous bone– Gray lesions, soft and gritty;

(mic) fibroblastic matrix embedded in scattered spicules of immature bone, (+)osteoid

– Xray- radioluscent areas of ground glass appearance,thinned cortices, deformed contours ( Shepherd crook), pathologic fractures

– Curettag,bone grafting and fixation

• Monostotic– Osteofibrous

dysplasia/ossifying fibroma- tibial diaphysis

Osteitis Deformans (Pagets dse)

• Chronic skeletal dse 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 ,metastatic Ca, osteomalacia, syphilis

• Treatment– Serial obsrvation– Calcitonin,

piphosphonates,mothramycin

– Surgical– Good prognosis– Development of malignancy

– osteogeniccarcinoma

Senile Osteoporosis

• Acquisition of bone mass up to 40 yrs old

• Accentuation of physiologic loss of bone mass

• Senile/postmenopausal osteoporosis

• Women, small stature, white• 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) affects trabecular bone, vertebral and distal radius fracture

– Type II – (age related) more than 75 yrs old, both

trabecular and cortical bone, hipand pelvic fracture

• Clinical picture– Fractures

• Pain, kyphosis, deformity

• 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 marrow spaces

• Treatment

Posttraumatic painful osteoporosis (sudecks atrophy,reflex sympthetic dystrophy)

• 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

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.