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Congenital deformities of lower extremity Foot progression angle Angular diff b/w axis of foot with direction walking Only defines in/out-toeing Normal= 10-15 degrees external rotation Mild= -5 to -10; moderate: -10 to -15; severe: > -15 Tibial torsion: in-toeing (common): (neither necessary nor helpful to get imaging to dx rotational deformities) Feet turn medially Usually resolves spontaneously (medial); lateral may worse w/ tim Usually from intrauterine crowding No racial/gender predilection CT is std for evaluation- views through femoral necks and hips Normal femoral anteversion goes from 40 degrees at birth to 15 at maturity Rotation of tibia from 5 to 15 MCC of in-toeing between 18 months and 3 years Metatarsus adductus: MCC in children under 18 months old (correct w/ casting if severe) Femoral torsion: MCC older than 3 Must exclude: development hip dysplasia (x-rays to rule out, ortolani and barlow test), genu varus/valgus, mild talipes equinovarus (clubfoot) Knees point straight ahead Surgical therapy if deformity greater than 3 std deviations from norm Osteotomy is surgery of choice (non-weight bearing short leg cast 4-6 weeks, remove hardware and immediate weight bearing) Medial femoral torsion: avoid “W” sitting Tibial bowing (genu varum): relatively uncommon Wide-based gait Multiple etiologies: some resolve, others complex surgery o Fetal positioning in utero o Vascular abnormalities

Congenital deformities of lower extremity Foot progression angle

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Page 1: Congenital deformities of lower extremity Foot progression angle

Congenital deformities of lower extremity

Foot progression angle

Angular diff b/w axis of foot with direction walking Only defines in/out-toeing Normal= 10-15 degrees external rotation Mild= -5 to -10; moderate: -10 to -15; severe: > -15

Tibial torsion: in-toeing (common): (neither necessary nor helpful to get imaging to dx rotational deformities)

Feet turn medially Usually resolves spontaneously (medial); lateral may worse w/ tim Usually from intrauterine crowding No racial/gender predilection CT is std for evaluation- views through femoral necks and hips Normal femoral anteversion goes from 40 degrees at birth to 15 at maturity Rotation of tibia from 5 to 15 MCC of in-toeing between 18 months and 3 years Metatarsus adductus: MCC in children under 18 months old (correct w/ casting if severe) Femoral torsion: MCC older than 3 Must exclude: development hip dysplasia (x-rays to rule out, ortolani and barlow test), genu

varus/valgus, mild talipes equinovarus (clubfoot) Knees point straight ahead Surgical therapy if deformity greater than 3 std deviations from norm Osteotomy is surgery of choice (non-weight bearing short leg cast 4-6 weeks, remove hardware

and immediate weight bearing) Medial femoral torsion: avoid “W” sitting

Tibial bowing (genu varum): relatively uncommon

Wide-based gait Multiple etiologies: some resolve, others complex surgery

o Fetal positioning in uteroo Vascular abnormalitieso Rickets, achondroplasia, metaphyseal dysplasia, traumua, bone infection, excess

prenatal fluoride supplementation Blount disease: African Americans.

o Another variation of Blounts: in adolescents and more common in boyso Most likely due to excessive intrauterine forces on bone, altered endochondral bone

formation Plain AP part of initial eval, measure limb lengths

Page 2: Congenital deformities of lower extremity Foot progression angle

CT for leg length used more (more accurate, less radiation) LEG LENGTH DIFFERENCES: among the biggest problems (greater than 5cm difficult to treat)

o <5cm: shoe lift, osteopathic evalo Large limb discrepancy: surgically corrected: family and child must be educated on

outcome/expectations Can return to sports at 6-12 months post surgery Follow up x-rays every 6 months until skeletal maturity Hardware removed after skeletal maturity

Genu valgum (knock-knee)

Resolution may be spontaneous, but if hereditary (adolescent) or metabolic: surgery One of MCC of teenage knee pain Countries w/ malnutrition: rickets, untreated injuries, infectious/rheumatic dz cause more No racial/ethnic/gender predilections Marfan syndrome: part of this as well as other syndromes Stress on lat femur/tibia: inhibits growth at physis Extra force on epiphysis: inhibitory effect on entire bone: normal lengthening suppressed

o Results in tilting of patella, subsequent lateral subluxationo Knee pain, joint laxity- abnormal/awkward gait

AP x-ray std study Occasionally need to document bone age: AP view of wrist No CT/MRI Most imp: recognizing difference in physiologic and pathologic Under 6 yo: self-limiting and benign Most important in osteo. Exam: gait observation Bracing/PT may slow progression, provide temp relief If requires surgery: staples and new techniques that don’t require hardware

o See every 3 months to assess growth, monitor after hardware removal tooo Outcome very good: staple minimally invasive w/ fever complications/in-pt time

Fibular hemimelia/proximal femoral focal deficiency (PFFD): (rare)

Postaxial hypoplasia Range from min shortening to complete absence Not hereditary May be present w/ other birth defects

o Blount dz, lat patellar sublux, ankle valgus, absent tarsal bones/toes, femoral hypoplasia Only known cause: thalidomide

o other toxins implicated, but none proven (radiation, ischemia, thermal injury, bacterial/viral infections, chemicals)

Fibular: thought to be from limb bud interference o Fetal period: fibular part dictates growth of prox femur

Page 3: Congenital deformities of lower extremity Foot progression angle

o Anomalies of knee, ankle and foot may be related No racial/gender/age/ethnic predilections Imaging: x-rays of extremity, hip films in PFFD CT/MRI for complex cases involving nervous/vascular system Treatment

o Nonoperative management: only for very mildo Fibular/tibial: shoe lift may be adequateo PFFD: surgery ranging from minor limb lengthening to amputationo Everyone must understand lengthy nature of procedureso Van Ness procedure: where limb lengthening not possible or fails- prosthesis

Require frequent follow-ups Seated/standing flexion test at each visit b/c have extra stress on abnormal pelvis

Tibial hemimelia

Many names From total absence to mild Leg is short and foot in severe equinovarus

Page 4: Congenital deformities of lower extremity Foot progression angle

Pediatric disorders of thoracic/lumbar spine

-On scoliometer: curve less than 5 degrees only needs observation. Info can vary as much as 10 degrees, so eval of any abnormality is warranted.

-scoliosis radiographs: Cobb Method- used to calculate curvature in vertebra

-curve of 40 degrees: OMT and bracing

-curve >50: OMT and surgical eval

Harrington rod: to avoid cardio/pulm compromise VATS (video assisted thoracoscopic surgery): reduces morbidity in spinal surgery. Can also be

used for instrumentation implantation w/ much less blood

-new device can measure w/o radiation (similar to MRI)

-curve <20: can be observed. Many children w/ short leg will improve curve to almost normal w/ regular osteopathic care and shoe lift.

**look for underlying pathology: esp pre-teens who may carry heavy backpacks

-shoe lift may be indicated for short leg: compliance is issue. Want the heel lift at the calcaneus strike point

Thoracic:

Sheuermann dz (juvenile kyphosis)o Osteochondrosis of vertebral bodies secondary to ossification centers (abnormal growth

in endplate cartilage- decreased collagen/proteoglycan ratio is the cause)o Localized changes in vertebral bodieso Boys>girlso Dx rarely made in children under 10o Pain MC morbidity (in kyphotic region); kyphosis presenting symptomo Typically tall, 13-16, advanced bone age, hx of poor posture, hamstring tighto Radiographic studies most useful

Wedge-shaped vertebral bodies, narrow disk spaceo Surgery rare, PT/osteopathic tx good

Klippel-feil syndromeo Deformity of cervical spine results from congenital fusion of at least 2 vertebraeo Short neck, limited neck motion, low occipital hairlineo Type I: massive fusion of cervical and thoracic spineo Type II: only involves cervical spine, only one or two vertebrae fused

Page 5: Congenital deformities of lower extremity Foot progression angle

o Type III: thoracic and lumbar spine AND involvement to Types I and II presento Plain radiographs for dx: AP/lat of cervical spineo MRI on all persons w/ neurological deficito Rental US as part of initial evalo ALL affected have audiometric evalo Any high velocity contraindicated!o Surgery carries risk of neurological damage

Lumbar:

Congenital scoliosiso Caused by anomalous vertebral development in embryoo Congenital malformation of spine caused by:

Malformation: failure of embryological differentiation Disruption: structural defect from destruction of part that was normal Deformation: does NOT cause congenital scoliosis

o Most severe: unilateral unsegmented bar vertebra w/ contralat hemivertebra at same level

o Least severe: caused by a blocked vertebra. o High incidence of other anomalieso Orthotics not effective b/c primary problem is not soft tissue/muscleo Four types of surgery

Convex growth arrest Posterior fusion Combined ant/post fusion Hemivertebra excision (vertebrectomy most radical: rarely done)

Idiopathic scoliosis: MCC (80%)o Curve presents after birtho 8 times more frequent in femaleso Possible causes: muscle disorder, elastic fiber system, disorganized skeletal growth, X-

linked inheritanceo Three subtypes

Infantile Diagnosed at 3 years or less MC curve is thoracic Only type more common in BOYS Significant spontaneous resolution

Juvenile Right thoracic curve Ages 3-12 Considered malignant sub-type

Page 6: Congenital deformities of lower extremity Foot progression angle

Bracing is primary tx unless angle >50 degrees Associated w/ neural axis abnormalities: Chiari type I malformations

Adolescent Most common type overall Tx driven by magnitude of curve and assoc. sx Cobb angle used most often (end vertebrae of curve) Riser-Ferguson angle: more suited to automated eval systems (uses

middle vertebrae for the angle Pulm testing routinely done before and after surgery or if severe curve MRI/CT in complicated cases

Always evaluate and treat any innominant or sacral base dysfunction before ordering x-rays. Always eval for upslip!

Curve cannot be changed by OMM, but other dysfunction may be making worse Operative management: now includes minimally invasive ant

laparoscopic tx Pseudoarthritis: common complication

Diskitiso Disk inflam. that may be related to infection: staph aureuso In children, slight male predilection, in adults much more maleso In children: age occurrence: 7 yearso Second peak at 50 yearso Rarely post-opo Children: sudden onset of pain, possibly refusal to walko Adults: more insidious w/ fever, chills, weight losso First line tx: antibioticso OMM contraindicated until improvement or neg cultureso Oral antibiotics NOT effective

Ankylosing spondylitiso More prevelant in north European heritageo Chronic multi-system inflame disorder of SI joints and axial skeletono Symptoms usually develop in late adolescenceo HLA-B27 o SI joints most commono Initial event is subchondral granulation tissue that erodes in to the jointo Infections may triggero Plain radiographs showing involvement of SI joint is requiremento One of following plus sacroiliitis

Limitation of lumbar spinal motion in all three planes Pain in lumbar or thoracolumbar region Limitation of chest expansion to one inch or less Radiographic changes

Page 7: Congenital deformities of lower extremity Foot progression angle

o Avoid HVLA

Non-traumatic cervical pain

DDX:

Somatic dysfunction Cerfical spondylosis/DJD Cervical radiculopathy (ribs can cause) Visceral referred pain (cardiac/GB…) Mechanical referred pain (TMJ/Shoulder…) Pathologic fracture Infection

Remember

Gross motion head SR in opp: think OA or SCM Head SR in same: think single SDs Restriction in flexion: trapezius Restriction in extension: SCM and strap muscles (connect to hyoid) Dysphagia: strap muscles and hyoid Radiation to upper extremities: entrapment Headache w/ pressure and tight headband sensation: suboccipital and occipitalis muscles and

greater/lesser cranial nerves Any sx: think SD Dizziness or syncope (esp w/ head turning): compromise of carotids and or vertebral arteries.

BE CAREFUL Respiratory disease: scalene and SCM and C3,4,5 (scalene attach and phrenic nerve) Radiation to ear or jaw: SCM and stylohyoid

Clinical testing

AP/lat/oblique EMG: nerve conduction test MRI for soft tissue (MS in neck) Ct for bones Myelogram if MRI misses disk herniation strongly suspected (long wait to get done, though)

Radiculopathy

Any pathologic condition of a nerve root: compression, bone spur, etc Cervical

o Sx Arm pain, clumsiness Dermatomal paresthesias or hyperesthesia

Page 8: Congenital deformities of lower extremity Foot progression angle

o Etiology Direct irritation of cervical nerve root

Spondylosis

Bone Cervical

o Sx Decreased ROM Pain, pain with upward gaze or rotation/extension of neck

o Etiology Age-related degeneration Trauma Genetics

o Progression Dehydration of intervertebral disc Thinning of disc space Buckling/dysfunction of intralaminar ligaments Possible protrusion of intervertebral disc Abnormal loading and fxn of joint surface Compensatory changes

o Physical findings Spams of cervical muscle Knotty/fibrous texture Loss of normal lordosis Somatic dysfunction Skin feels like leather

Degenerative Joint Dz

Degenerative/hypertrophic changes in bone/cartilage Progressive wearing down of opposing joint surfaces w/ consequent distortion of joint position

Page 9: Congenital deformities of lower extremity Foot progression angle

Low back pain

Acute: less than 3 months (80-90% recover within 12 weeks regardless of tx)

Chronic: more than 3 months

14% of new visits to PCP

Second most common symptomatic reason for physician office visit 85% of gen pop will have (60-90% incidence) Most expensive cause of work related disability

**prior hx of low back pain is strongest predictor of a future episode

Red flags

Major trauma >50 or <20 Hx of cancer Cauda equine sx

o Saddle anesthesia, bladder dysfunction, neuro sx, muscle weakness Atherosclerotic dz Corticosteroids Hx of osteoporosis Constitutional sx

o Fever, weight loss, chills, recent infection, IV drugs, immune suppression

Lumbar vs sacral

Single leg raise Dbl leg raise

o Greater motion before pain: SIo Less motion before pain: LS

Goldthwaite’s testo Cephalad palm underneath LS spine and do SLR

Pain before movement: SI

Acute lumbar strain

Wastebasket diagnosis Acute injury to soft tissues w/ NO NEUROLOGIC COMPONENT 85% pts: specific cause not found

SI ligaments contain mechanoreceptors

Act as strain gauges, even w/ very little motion

Page 10: Congenital deformities of lower extremity Foot progression angle

Iliolumbar ligament sprain

Refer pain to ant thigh or groin

Facet syndrome

Can mimic pars fractureo Focused pain, worse w/ extentiono Acute or chronic

Standing and seated kemp’so Disc early, facet later

Hyperflexion testo Put supine, flexes hips maximallyo Will aggravate a disc and relieve a facet problem

Lumbar disc herniation

Most preceded by bouts of varying degrees and duration of back pain Pain may eventually radiate to leg, less achy, burning, shooting, stabbing Three joint complex carries 75% of load (vertebrae and intervertebral disc) Bulging is normal (over 30% of normal pts have positive MRI!) Nucleus pulposus has a higher contect of proteoglycans than the disc annulus L3, 4: radiate to groin or ant thigh First sacral: pain in post thigh and calf and lateral foot L5: MOST COMMON: lateral thigh and lower leg pain and dorsum of foot Surgical indications:

o Cauda equine syndromeo Progressive neurologic deficito Persistent bothersome sciatic pain for 6-12 weeks

Contraindications to surgeryo Unrelenting back paino Incomplete workupo Not provided adequate conservative tx

Lumbar discitis

Disc infection (after surgery, haematogenous spread) Increasing, unrelenting low back pain, stiffness, maybe fever SED rate and C reactive protein off the chart

Lumbar spondylolysis and spondylolisthesis

Defect in Pars Interarticularis

Page 11: Congenital deformities of lower extremity Foot progression angle

Know this!o Grade 1 (0-25% slip)o Grade 2 (26-50%)o Grade 3 (51-75%)o Grade 4 (76-100%)o Grade 5 (>100%): surgery!o 82% at L5-S1!!!o Degenerative at L4-5 (more in females)

Most commonly white males More aggressive in females although get it less often Acute isthmic

o 1st, 2nd decades (most before 15 yo)o Sx at growth spurto Radicular pain w/ larger slipso Most pts asymptomatic

Degenerativeo Insidious onset w/ radiation to post upper thighso Chronic and progressive

Dysplastico Presents like isthmic but neurologic compromise more likelyo Incomplete fusion of post elements on plain films

Pain w/ spine extension is spondolysis until proven otherwise

Neurologic exam important!!

Causes:

Genetico Familial predispositiono Spina bifidao Dysplastic

Pathologico Tumoro Bony destructive lesion

Workup

Lab to rule out pathologic causes Imaging

Do not use HVLA in acute spondy!!

Lumbar stenosis

Page 12: Congenital deformities of lower extremity Foot progression angle

Middle-aged and elderly Neurogenic intermittent claudication: leg fatigue, pain, numbness, weakness Tx: usually surgical decompression Lumbar vertebral canal is triangular in shape and narrowest in A-P diameter Two types: bony encroachment, nonosseous structures

Disorders of thoracic spine

Test:

Pigeon chest: pectus carinatum

Barrel chest: increase AP diameter

Flail chest: paradoxical movement (emergency!)

Rickets: vit D deficiency (beads on chest wall, Harrison groove)

Rib notching: neurofibromatosis (also coarctation of aorta)

Thoracic kyphosis: most common cause of osteoporosis in elderly

Osteoporosis: develop wedging of anterior vertebral body

Akylosing spondylitis: poker spine (stiffness), bamboo spine

Clavicle: 80% in middle third

Costochondritis

Dull chest pain Worse w/ movement and respiration Tenderness along costochondral joints w/o swelling Usually benign and self limited Cause usually unknown: inflame arthritis, IBD.. Tx: rest, nonsteroidal meds Tietze syndrome: fusiform tender swelling of costal cartilage (upper ribs):rare

Pectus carinatum

Pigeon chest Assoc w/ scoliosis and mitral valve prolapsed

Page 13: Congenital deformities of lower extremity Foot progression angle

Pectus excavatum

Male Frequently asymmetric 1st/2nd ribs and manubrium in normal position Congenital cardiac deformities common!

Poland Syndrome

Absence/hypoplasia of unilat pectoralis muscle w/ SYNDACTYLY (fingers grown together)

Barrel Chest

Increased AP diameter Expiratory phase inhibited (increased) Emphysema, senile kyphosis

Rib fractures

Flail Chest

Multiple rib fractures May be assoc w/ pneumothorax Med emergency! Paradoxical movement (breathe in forms neg pressure and wall sucks in)

Cicatrix

Burns may limit chest excursion Tx: surgery to release

Rickets

Vit D deficiency Lack of mineralized calcium in bones Rachitic rosary: failure of bones to harden- beads on chest wall Harrison groove above pot belly

Rib notching

Due to collateral circulation from cardiac problems such as coarctation of aorta Neurofibromatosis Dock’s sign: not the anterior intercostals (it’s the posterior)

Cervical ribs

Accessory rib (Eve’s) arising from the 7th cervical vertebra transverse process

Page 14: Congenital deformities of lower extremity Foot progression angle

o May be small or can be fullo Can cause impingement syndromes and thoracic outlet syndromes

Chest wall tumors

Usually in ribs Malignant until proven otherwise Infectious Chondrosarcoma most common Metastatic: breast, thyroid, kidney, lung

Thoracic kyphosis

MCC osteoporosis No lateral curvature Younger: metabolic problem

Osteoporosis

Fractures frequently in thoracic spine and are MCC Wedging of ant vertebral body- contributes to kyphosis

Arthritis

Ankylosing spondylitis

Seronegative Inflammatory changes and new bone at attachment of tendons/ligaments SI involvement Poker spine (stiff), bamboo spine MC complain: pain Assoc symptoms: anterior uveitis, vascular problems HLA-B27: Psoriasis, Ankylosing spondylitis, IBD, Reiter’s (PAIR)

Clavicle

Usually middle third which lacks ligamentous support- rarely needs surgery Associated lymph nodes important: supra/infraclavicular

AC joint dislocation

Graded 1-4: complete dislocation requires surgery: grade 4= completely dislocated May involve tear of coracoclavicular ligament Pin to repair it

Clavicle dysostosis

Page 15: Congenital deformities of lower extremity Foot progression angle

Incomplete ossification of the clavicles- usually assoc w/ other skeletal deformities Develop abnormalities of shoulders/rib cage

Benign Bone Tumors

Questions asked in workup of possible tumor

Age, duration of complaint, rate of growth, pain (osteochondromas may cause secondary sx), hx of trauma, personal/fam hx of cancer (neuroblastoma prone for bony metastases, retinoblastoma at risk for osteosarcoma), systemic signs

Osteochondroma

MC benign bone tumors X-rays show bony outgrowth from cortex Tend to occur near ends They are hamartomas (outgrowths of normal bone/cartilage in abnormal locations) Most often between age 10-20 Multiple osteochondromas tend to run in families: risk to chondrosarcoma may be 30% Can become malignant! Tx: excision if near a nerve, causes pain, disturbs growth, transformation to malignant

Fibrous dysplasia

Anomaly of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation

Virtually any bone can be affected Nonhereditary Medullary bone replaced by fibrous tissue- GROUND GLASS appearance Tx: no specific treatment

o Bisphosphonates (IV)o Concomitant calcium and vit D2 (to avoid secondary hyperparathyroidism)o Surgical indications: severe or progressive dz

Page 16: Congenital deformities of lower extremity Foot progression angle

Chondroma (UNCOMMON)

Men in 2nd-4th decades w/in bone marrow cavity often found when x-rays taken for another reason tumors- lytic with areas of stippled calcification, viable on bone scan focal areas of mixoid degeneration: mistaken for chondrosarcoma conventional radiography primary imaging; CT helps eval of matrix. Biopsy if not sure Tx: asymptomatic does not need excision or other tx

o Follow-up x-rays 6 mo and 1 yr later

Non-ossifying fibroma

Well circumscribed, solitary fibrous proliferation Children Males (may be in as many as 35% of all children) MC= femur, followed by tibia Occasionally a larger lesion presents as a pathologic fracture Serial x-rays show lesion migrating away from epiphyseal plate w/ time Only definite indication for tx= pathologic fracture

Chondroblastoma

Codman’s tumor Originates from cartilage Must be surgically excised, may reoccur

Osteoid osteoma

MC benign osteoid-forming tumor

Page 17: Congenital deformities of lower extremity Foot progression angle

Males Proximal femur Tx: NSAIDS because produce lots of prostaglandins Unique pathogenic nerve supply Tx: NSAIDS, if growing-surgery, and now RFA (radiofrequency ablation)

Benign giant cell tumor (eggshell in picture)

Epiphyses and may erode and extend in to soft tissues Recur! May metastasize (rare) Tx: curettage and packing w/ methyl methacrylate

Osteoblastoma

Solitary benign tumor that produces osteoid and bone Metaphysic, diaphysis of long bones Spine: in posterior processes; vertebral bodies are spared: scoliosis, neurological sx Radio-lucent w/ central density due to ossification Tx: curettage, intralesional excision or en-bloc excision

Enchondroma

Benign cartilage tumors (ectopic hyaline in intramedullary bone) Chondrocytes grow slowly Unsightly swelling or pathologic fracture of the bone Hand pain, fracture: calcification Three types:

o ollier dz (age 0-10): multiple lesions nonhereditary prognosis is excellent

o maffucci dz nonhereditary multiple hemangiomas

Page 18: Congenital deformities of lower extremity Foot progression angle

o metachondromatosis inherited auto. Dom.

Tx: surgery, bone grafting May just have short stature

Chondromyxofibroma

Very rare and occurs before age 30 Tx: surgical excision or curettage Recurrence common

Ollier disease

May have short stature

Malignant lesions five year survival is still 65%

• In the case presented, what eval would be the LEAST helpful in identifying the boy’s lesions before doing a bx?

• Blood work w/ CBC

• In the case presented, what is the most concerning part of the hx?

• Fx w/o trauma history

• Choose the correct statement regarding enchondroma

• Multiple enchondroma have a higher rate of malignancy

• Concerning the child in this case, multiple enchondromas are :

• Places him at greater risk for malignancy

• What labs should be doing in Ollier dz/

Page 19: Congenital deformities of lower extremity Foot progression angle

• No other lab tests necessary

Genetic musculoskeletal disorders

Mucopolysaccharidoses

Inherited (all auto recessive except Hunter: sex-linked) Result of defective activity of lysosomal enzymes Cell fxn abnormal due to accumulation of proteins/glycosaminoglycan by products Degradation products are excreted in urine diagnosis MPS I (Hurler syndrome ):

o Dx at 6-24 monthso Corneal clouding, skeletal dysplasia, large tongue, short statureo Death by ten

MPS II (Hunter syndrome): mild and severe formso Severe: age 2-4- progressive neurologic involvement; death by 10-15o Mild: much slower; normal intelligence; hearing loss, life=60-70 years

MPS III (Sanfilippo syndrome) MOST COMMONo Mental deterioration, lg head, hepatosplenomegaly, course hair, joint stiffo Survival to 2nd or 3rd decade

MPS IV (Morquio syndrome): mild and severeo Orthopedic problems

Tx: no cureso Enzyme laronidase for MPS Io Management of hearing losso Hydrocelphalus treated w/ shunting when needed

Osteogenesis imperfect

Genetic condition caused by qualitative/quantitative defects in type I collagen Fragile, brittle bones Type I collagen

o Bone, organ capsules, fascia, cornea, sclera, tendons, meninges, dermis Type I

o A: dentinogenesis imperfect absento B: dentinogenesis imperfect PRESENTo Blue sclera, in utero fractures, hearing loss, easy bruising, shorto Autosomal dominant

Type IIo Most do not survive first year of life, stillborn, etc…o No hearing loss, small nose, all have in utero fractureso Beaded ribso Autosomal dominant

Page 20: Congenital deformities of lower extremity Foot progression angle

Type IIIo Fairly normal life span if survive infancy/early childhoodo Dentinogenesis imperfecto No hearing loss, variable sclerao 50% w/ fractures in uteroo Pulmonary hypertensiono Triangular face and frontal bossing, limb shorteningo Autosomal dominant

Type IVo A: dentinogenesis imperfect absento B: PRESENT; normal sclera/hearing, angulation of long boneso Autosomal dominant

Lab studies are normal! Collagen syn analysis and prenatal chorionic villus sampling can be done Tx: no medical therapy exists

Limping child

Developmental dysplasia of hip

Proximal femur and acetabulum Hips dislocated or easily dislocatable Risk: female, first pregnancy, clubfoot, breech, multiple gestation L more common than R Two types: typical and teratologic Unequal thigh creases Tests: barlow and ortolani maneuver Galeazzi/Allis sign: shortened thigh Anything abnormal on phys exam: GET US OR HIP X-RAYS US preferred evaluation modality (coronal and transverse planes) Hilgenreiner/Perkins/Shenton: line measurements to evaluate femoral head/acetabulum

relationship Using triple diapers no longer done! Use the Pavlik harness (keep in flexion and abduction)

Slipped capital femoral epiphysis

Salter-Harris type I fracture through prox femoral physis, due to stress around the hip Almost exclusively during pubertal growth spurt Modality of choice: AP films of pelvis and lateral frog-leg views OMM ALWAYS contraindicated!!

Page 21: Congenital deformities of lower extremity Foot progression angle

No hip joint manipulation until incisions are healed

Legg-Calve-Perthes

Avascular necrosis of prox femoral head from compromised blood supply Usually children ages 4-10 New bone may appear NORMAL on x-ray Short stature and delayed bone age commonly assoc Most common presentation: painless limp Tx: Scottish rite or Atlanta brace

Transient synovitis

Arthralgia from non-specific inflammation in hip synovium Male between 3-10 Present w/ onset of pain when walking High fever rare, but some children may have mildly elevated temp Usully recent history of URI NOT assoc. w/ skin erythema over affected area Leg roll test most sensitive Want to examine knee, eval for bacterial joint infection if fever/high ESR Tx: heat and gentle ROM Any manipulation of hip contraindicated until dx confirmed Most resolve spontaneously

Page 22: Congenital deformities of lower extremity Foot progression angle