Congenital deformities are attributable to faulty development
and are present at birth, though they may not be recognised till
later Vary from severe malformations incompartible with life to
minor structural abnormalities with no practical significance
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Congenital anomalies affect 1-2% newborns with 10% with upper
limb anomalies Accurate diagnosis and communication to family
required
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Embryogenesis of upper limb between 4-8 week gestation guided
by signalling centres within developing limb bud Anomalies may be
associated with systemic disorders, in isolation or in combination
with other musculoskeletal problems
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Signalling centres Apical ectodermal ridge Zone of polarizing
activity Wingless-type( Wnt) signalling centre Abnormalities within
1 centre indirectly prohibit functioning of other 2 and affect limb
formation
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Apical ectodermal ridge Ectoderm layer guiding underlying
mesoderm to differentiate to appropriate structures Limb
development in proximal to distal direction Interdigital
necrosis
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Zone of polarizing activity Within posterior margin of limb bud
Signalling centre for anterior to posterior(radioulnar) limb
development Signalling molecule for limb orietation sonic hedgehog
protein
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Wnt signalling centre Dorsal ectoderm Secrete factors that
induce mesoderm to adopt dorsal characteristics Mediates
development of dorsal-to-ventral axis configuration and alignment
of the limb with dorsal orientation( dorsalization)
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Causes Genetic Environmental Combined genetic and
environmental: most congenital malformations in man
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Classification I: Failure of formation of parts II: Failure of
differentiation of parts III: Duplication IV: Overgrowth V:
Undergrowth VI: Congenital constriction band syndrome VII:
Generalized skeletal abnormalities International Federation of
Societies for Surgery of the hand- 1976
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Failure of longitudinal formation- radial club hand
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Failure of longitudinal formation- Cleft hand
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Failure of differentiation- Syndactily
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Congenital constriction band syndrome
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Constriction bands Type 1: mild transverse/oblique digital
groove Type 2: deeper groove with abnormal distal part Type 3:
incomplete or complete syndactyly of distal part( acrosyndactyly)
Type 4: Complete amputation distal to constriction
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Incomplete type 1 treated by observation If can cause vascular
impairment, surgical release by multiple Z-plasty closure Entire
release if shallow If deep, only 1 side of digit released at each
procedure to avoid vascular compromise Acrosyndactyly separation
initiated at 6/12
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Madelungs deformity Abnormal growth of volar and ulnar distal
radial epiphysis Ulnar and volar tilt of distal radial articular
surface Premature fusion of ulnar half of radial physis Short,
bowed radius Short ulna Wedging of carpus between distal radius and
ulna
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Ulnar head enlarged and dorsally subluxated Apparent in late
childhood/ early adolescence Degrees of motion limitation and pain
due to ulnocarpal impingement
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Rx Initial splinting( Can provide complete and permanent
relief) Surgery if persistent pain Radial osteotomy plus ulna
shortening osteotomy Radial osteotomy with distractionlengthening
of the radius
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Functional development of childs hand Well coordinated control
of the grasp and pinch between thumb and fingers at end of 1 st
year 1-3, refined coordination with bimanual dexterity and strength
of grasp and pinch
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Maximal functional gain before child conforms to fixed pattern
of activities Most reconstruction should be completed before
school
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Initial assessment Definition and classification of abnormality
Assessment of severity of deformity with provision for
deterioration with growth If necessary, conservative treatment by
splintage, stretching exercises Inform parents if later surgery
needed Clinical geneticist consult if necessary
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Surgery Achievement of function and cosmesis( In order of
priority) 2-handed pattern superior to single hand Unsightly
abnormality may lead to psychological strain thus affecting
function No operative intervention should compromise existing
function
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Timing Depends on specific anomaly Usually 6-18 months Earlier
Rx for conditions that threaten limb viability e.g. constriction
bands
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Goals of reconstructive surgery Functional position of
components of the hand Provide good skin cover with adequate
sensation Satisfactory power grip and precision pinch
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Pitfalls in reconstructive surgery Diversity of anomalies leads
to difficulty in surgery( Every pt should be individualised)
Unpredictable growth potential e.g. recurrence of webbing in
syndactily Lack of cooperation from child complicates post
operative rehabilitation
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Rehabilitation Team approach Functional capability assessment
by P.T./O.T. Parental care and encouragement Counselling by
clinical psychologist
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Child prosthesis Only realistic option in some anomalies e.g.
transverse arrest at or above forearm Training as early as 18/12
complexity in accordance with functional need
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Chronological management plan
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Isaac Newton In the absence of any other proof, the thumb alone
would convince me of Gods existence
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Thumb hypoplasia Short thumb: Doesnt reach PIPJ of index finger
Adducted thumb Abducted thumb Pouce flottant: Short, unstable
thumbmore distal and radial than normal Absent thumb( Index
pollicization) Blauth classification
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Other anomalies Congenital trigger thumb Congenital clasped
thumb All neonates hold thumb in that position till 3/12 age
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THUMB DUPLICATION Both radial and ulnar duplicates display some
hypoplasia, but radial usually affected more Intrinsic muscles
innervated by ulnar nerve insert on ulnar duplicate while those by
median nerve on radial duplicate Digits may be angulated and joints
may be stiff M F
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Many forms ranging from degrees of splitting to complete
duplication Occasionally only fleshy nubbins on radial border
Duplication alone usually unilateral and sporadic Duplication
associated/w triphalangeal thumb usually AD
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Treatment Surgical treatment recommended Recommended time
Combination of elements of both digits For unequal digits, excision
of smaller digit with collateral ligament reconstruction Care to
ensure normal articular contour of distal phalanx
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Individualised for more complex deformities For type 4, least
developed digit( usually radial duplicate) amputated Intrinsic and
extrinsic tendon transfers, with radial collateral ligament
reconstruction Occasionally, osteotomy or growth plate arrest to
improve alignment