arthrogryposis
TRANSCRIPT
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ARTHROGRYPOSISARTHROGRYPOSIS
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comprises nonprogressive conditions comprises nonprogressive conditions characterized by multiple joint contractures characterized by multiple joint contractures found at birth found at birth
1 in 3000 live births1 in 3000 live births Multiple congenital contractures Multiple congenital contractures
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Etiology Etiology Fetal akinesiaFetal akinesia Failure of skeletal muscle Failure of skeletal muscle
developmentdevelopment Muscle disordersMuscle disorders Vascular causeVascular cause Defective myogenic Defective myogenic
regulatory genesregulatory genes Pena Shokeir syndromePena Shokeir syndrome Viral etiologyViral etiology
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Genetics Genetics SporadicSporadic AD / AR / XLRAD / AR / XLR Lethal congenital contracture syndrome (9q34)Lethal congenital contracture syndrome (9q34) Neurogenic type of arthrogryposis multiplex Neurogenic type of arthrogryposis multiplex
congenita (5q35)congenita (5q35) Arthrogryposis-renal dysfunction-cholestasis Arthrogryposis-renal dysfunction-cholestasis
syndrome (15q26)syndrome (15q26) Lethal congenital contracture syndrome (LCCS) Lethal congenital contracture syndrome (LCCS)
type 2 (12q13)type 2 (12q13) A novel autosomal recessive LCCS type 3 A novel autosomal recessive LCCS type 3
(19p13)(19p13)
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PathologyPathology
Neuropathic formNeuropathic form Articular jointsArticular joints Myopathic formMyopathic form Articular degenerative changesArticular degenerative changes
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Family historyFamily history
Dislocated joints / clubfeet / hyper extensibilityDislocated joints / clubfeet / hyper extensibility Consanguinity Consanguinity Maternal and paternal ageMaternal and paternal age Previous abortionsPrevious abortions
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Pregnancy historyPregnancy history
Myotonic dystrophy / multiple sclerosis / Myotonic dystrophy / multiple sclerosis / myasthenia gravismyasthenia gravis
Maternal infectionsMaternal infections Maternal fever for extended periodsMaternal fever for extended periods DrugsDrugs Oligo / polyhydramniosOligo / polyhydramnios
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Delivery historyDelivery history
AtypicalAtypical Traumatic deliveryTraumatic delivery Abnormal placenta, membranes, cordAbnormal placenta, membranes, cord Twins Twins
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Classic arthrogryposisClassic arthrogryposis
Amyoplasia Amyoplasia Intelligent / midline cutaneous Intelligent / midline cutaneous
hemangiomahemangioma Frequent postureFrequent posture Thin, atrophic extremitiesThin, atrophic extremities No joint creaseNo joint crease Sausage like limbsSausage like limbs Reduced joint motionReduced joint motion
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Head and neck Head and neck motionmotion
Shoulder / elbow / Shoulder / elbow / wrist / fingers / wrist / fingers / thumb / hip / knee / thumb / hip / knee / feet / spinefeet / spine
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Distal arthrogryposisDistal arthrogryposis Peripheral jointsPeripheral joints Type 1 – hand, feet deformityType 1 – hand, feet deformity Type 2a – cleft palate, short Type 2a – cleft palate, short
staturestature Type 2b – mitochondrial Type 2b – mitochondrial
disorder, absent palm crease, disorder, absent palm crease, ophthalmoplegiaophthalmoplegia
Type 2c – cleft lip and palateType 2c – cleft lip and palate Type 2d – scoliosisType 2d – scoliosis Type 2e - trismusType 2e - trismus
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Differentials Differentials
150 syndromes150 syndromes Freeman Sheldon syndromeFreeman Sheldon syndrome Escobar syndromeEscobar syndrome Beal syndromeBeal syndrome Diastrophic dysplasiaDiastrophic dysplasia
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TreatmentTreatment
Most children have good prognosisMost children have good prognosis May be progressive but no new joints are May be progressive but no new joints are
involvedinvolved Passive stretching exercise followed by Passive stretching exercise followed by
serial splinting with custom made serial splinting with custom made thermoplastic splintsthermoplastic splints
2 major goals2 major goals Plantigrade standing and walkingPlantigrade standing and walking
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Existing joint motion to be preserved and Existing joint motion to be preserved and placed in most functional positionplaced in most functional position
Stiff joints placed for functional advantageStiff joints placed for functional advantage Knee and hip surgery – around 6 to 9 Knee and hip surgery – around 6 to 9
monthsmonths Foot surgery – when patient starts Foot surgery – when patient starts
standingstanding
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1. Foot1. Foot Clubfoot / congenital Clubfoot / congenital
vertical talusvertical talus Rigid deformed to Rigid deformed to
rigid plantigraderigid plantigrade Manipulation and Manipulation and
serial casting but serial casting but surgery eventually surgery eventually needed in clubfootneeded in clubfoot
Talectomy / Talectomy / calcaneocuboid calcaneocuboid fusion / cancellectomyfusion / cancellectomy
Triple arthrodesisTriple arthrodesis
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2. Knee 2. Knee Initial Rx of flexion Initial Rx of flexion
contracturescontractures Hamstring lengthening / Hamstring lengthening /
capsulotomycapsulotomy Supracondylar distal Supracondylar distal
femoral osteotomy / femoral osteotomy / femoral shorteningfemoral shortening
Quadriceps contracture - Quadriceps contracture - plastyplasty
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3. Hip3. Hip
Passive stretching exercises in infancyPassive stretching exercises in infancy Surgically, 1Surgically, 1stst knee correction knee correction Flexion ≥ 45 → surgeryFlexion ≥ 45 → surgery Ideal – medial approach at about 6 monthsIdeal – medial approach at about 6 months Older children – anterior approach, Older children – anterior approach,
femoral shorteningfemoral shortening Post op immobilization only for 6 to 8 Post op immobilization only for 6 to 8
weeksweeks
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4. Shoulder 4. Shoulder
Fixed internal rotation may cause difficulty in Fixed internal rotation may cause difficulty in normal elbow and hand functionnormal elbow and hand function
Proximal humeral rotation osteotomyProximal humeral rotation osteotomy
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5. Elbow 5. Elbow Stiff flexed – surgery not Stiff flexed – surgery not
indicatedindicated Goals for extension Goals for extension
deformity – gain functional deformity – gain functional ROM, active elbow flexionROM, active elbow flexion
Lengthening of triceps, Lengthening of triceps, posterior capsulotomy – posterior capsulotomy – most reliable durablemost reliable durable
Elbow stability in Elbow stability in extension to be extension to be maintainedmaintained
Steindler flexorplastySteindler flexorplasty
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Triceps transferTriceps transfer Bipolar pectoralis transferBipolar pectoralis transfer Bipolar latissimus transferBipolar latissimus transfer
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6. Wrist 6. Wrist
Neutral or mild ulnar deviation + Neutral or mild ulnar deviation + dorsiflexion between 5-20 degreesdorsiflexion between 5-20 degrees
Closing wedge osteotomy through the Closing wedge osteotomy through the midcarpusmidcarpus
Wrist arthrodesisWrist arthrodesis