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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