Embryology of the Upper limb and congenital hand anomalies

Question 1

Describe upper extremity embryogenesis

Answer 1

• Wk 4-8 - at end of embryogensis, structures are present (including cartilage, not bone) and will then differentiate/mature
• at birth - carpal bones and epiphyseal plates not yet ossified/not visible on xray

3 axes of development

• derived from MESODERM (lateral plate & somatic)
• PROXIMODISTAL = AER and PZ
  
  • Apical Ectodermal Ridge controls the apoptosis interdigital and guides differentiation of cells in Progress Zone defines digits
• ANTEROPOSTERIOR = ZPA
  
  • Zone of Polarizing Activity defines A-P axis by amount of SHH signalling defines thumb on radial side
• DORSOVENTRAL = WNT
  
  • Wnt singnalling in dorsal ectoderm defines nail pulp from plate

OSSIFICATION

• clavicle first to ossify
• Radius, ulna, DP, MC, PP, MP
• Carpal bones post natal - C, H, Tq, L, STT, Pisiform

Question 2

How do you classify and list congenital upper extremity deformities

Answer 2

IFSSH

• FAILURE OF FORMATION
  
  • transverse arrest
  • longitudinal arrest
    
    • Ulnar longitudinal deficiency
    • Radial longitudinal deficiency
    • Central ray deficiency (cleft hand
    • longitudinal Intercalary deficiency (phocomelia)
• FAILURE OF DIFFERENTIATION
  
  • Syndactyly
    
    • Apert
    • Acrosyndactyly
  • symphalangism
  • clinodactyly
  • camptodactyly
  • arthrogriposis
  • flexed thumb
    
    • trigger
    • clasped
• DUPLICATION
  
  • Polydactyly
    
    • preaxial (thumb)
    • postaxial (little)
    • axial (central)
  • Ulnar dimelia (mirror hand)
  • Triphalangism
• UNDERGROWTH
  
  • symbrachydactyly
  • hypoplastic/adactyly
• OVERGROWTH
  
  • macrodactyly
  • limb
• CONGENITAL BAND SYNDROME
• GENERALIZED SKELETAL ABNORMALITIES

Question 3

What is the incidence of congenital hand anomalies

Answer 3

1/600

and 10% of these have functional sequelae

Question 4

What is the etiology of congenital hand anomalies

Answer 4

• Unknown (60%)
• Genetics (30%)
  
  • unknown mutations
• Environment (10%)
  
  • Warfarin => limb hypoplasia
  • Dilantin => nail dysplasia, DP hypoplasia
  • Alcohol => nail dysplasia, DP hypoplasia
  • Thalidomide => phocomelia
  • Varicella =>longitudinal deficiency

Question 5

At what age is power grip, tip pinch and hand preference established?

Answer 5

• power grip: 7mths
• tip pinch: 9mths
• hand preference 3-4yo

Question 6

What are the goals of surgical planning for correction of congenital hand anomaly

Answer 6

• precise pinch
  
  • palmar pinch most used
  • lateral pinch also important
  • tip pinch precise but used less often
• power grasp

Question 7

Failure of formation: Transverse arrest

What is the etiology, clinical presentation, management

Answer 7

• Etiology
  
  • sporadic mutation
  • RFs: smoking, cocaine, misoprostol, CVS
• Clinical presentation
  
  • usually, LEFT, UNILATERAL
  • level of amputation proximal forearm most common, then midcarpal/metacarpal
  • named according to last present structure
  • contralateral and proximal structures hypoplastic
  • may have finger nubbis/nails
• Management
  
  • prosthesis is mainstay
  • may remove nubbins or not (usefu lfor sensory feedback)
  • revision of stump for prosthesis fitting

Question 8

Failure of formation: longitudinal deficiency, Radial

What is the etiology, clinical presentation, classification

Answer 8

• Etiology:
  
  • injury to AER
• Clinical presentation
  
  • RIGHT, MALE
  • 50% bilateral
  • 50% associated with congenital syndrome
  • On exam -
    
    • wrist: unstable, radially deviated, pronation
    • ulna - bowed, shortened
    • radial structures absent (including muscle, nerve, vessel and upper arm/BP too
• Classification: Baynes & Klug
  
  • Type 1 - <2mm hypoplastic radius
    
    • short epiphysis
    • no wrist angulation
  • Type 2: >2mm hypoplastic radius
    
    • short epiphysis and proximal hypoplasia
    • wrist radially deviated, supported
    • ulna bowed
  • Type 3: partial absence of radius
    
    • wrist radially deviated, unsupported
    • ulna thick, bowed, shortened+ anlage (fusion of tendon/fibrous tissue 2’ to absnt muscle)
  • Type 4: Absent radius
    
    • ​most commone type
    • wrist: unstable, radial, pronated
    • ulna short bowed, anlage
    • elbow may be unstable

Question 9

What syndromes are associated with radial longitudinal deficency and what work-up is necessary if RLD is identified?

Answer 9

• Holt-Oram
  
  • ASD/VSD
• VACTERL
  
  • Verterbral, Anam, Choanal/Cardiac, TE fistula, Renal, Limb
• TAR
  
  • thrombocytopenia + absent radius
• Fanconi
  
  • pancytopenia, ASD, poly/clino/syndactyly
• Nager
  
  • craniosynostosis

WORK-UP

• blood panel (low plat, pancytopenia)
• cardiac echo (HO, VACTERL, Fanconi)
• renal U/S (VACTERL)
• xrays

Question 10

How what are treatment options for RLD?

Answer 10

Non-operative

• start at birth
• splinting, serial casting, PT/hand therapy
• improve position of wrist, maintain full PROM

Operative

Indicated: no wrist stability, extensor excursion

Contraindicated: elbow stiff (want wrist radial to feed)

• Wrist/Hand
  
  • centralization: realign 3rd MC with distal ulna and fixate (steinmann/kwire)
  • radialization: realign 2nd MC with distal ulna
  • ulnocarpal arthrodesis
  • closing wedge ulna osteotomy
• Soft tissue relese/rebalance
  
  • tendon trasner FCU to ECU
  • release anlage to achieve ROM (watch median nerve

Question 11

Failure of formation: longitudinal deficiency, Ulnar

What is the etiology, clinical presentation, classification

Answer 11

• Etiology
  
  • ZPA abnormal
• Clinical presentation
  
  • elbow unstable, fixed in flexion. fused w radius
  • wrist stable
  • Many associated HAND abnormalities: thumb hypoplasia, syndactyly ulnar digit, absense radial digit
  • wrist deviated ulnar
  • 25% bilateral
  • 50% associated with MSK defect or 3 syndromes (CdL, PFFD, Schinzel)
• Classification (Baynes)
  
  • Type 1 - ulna hypoplastic
    
    • distal + proximal epiphysis present
  • Type 2 - partial ulna absence
    
    • ​most common
    • presence distal 1/3 only
  • Type 3 - total ulna absence
  • Type 4 - radiohumeral synostosis (fusion)

Question 12

What 3 syndromes are most commonly associated with ULD and what MSK abnormalities are associated w ULD

Answer 12

• Cornelia de Lange
  
  • excess facial hair, short, DD, seizure
• PFFD
  
  • proximal femoral focal deficiency
• Schinzel
  
  • renal abnormalitiy, DD
• MSK abnormalities
  
  • scoliosis, spia bifida
  • fibula/femur deficiency
  • contralat phocomelia

Question 13

What are treatment options for ULD

Answer 13

Non-operative

• splinting, serial casting to maintian PROM

Operative

• Correct ass. HAND abnormalities
  
  • thumb recon: pollicization, web deepen, MC rotational osteotomy
  • syndactyly release
• wrist/forearm/elbow
  
  • release anlage
  • rerotational radius osteotomy/humerus

Question 14

What are difference between ULD/RLD

Answer 14

• Incidence: RLD 10x more common
• Associated syndrome/abnormalities
  
  • RLD - cardiac/renal/hematopoetic
  • ULD - MSK, DD
• Hand abnormalities
  
  • RLD - thumb
  • ULD - syndactyly ulnar digit, absent radial 2-3digits
• Elbow/wrist
  
  • RLD - elbow stable, wrist unstable
  • ULD - wrist stable, elbow unstable
    *

Question 15

Failure of formation: longitudinal deficiency, Central

How do you distinguish between the 2 types of central deficiency

• cleft hand
• symbrachydactyly

Answer 15

• Cleft hand = D5 intact
  
  • V-shaped cleft
  • variable deficiency of D3
  • hypoplasia of radial digits
  • syndactyly 1st web
  • AR/sporadic genetics
  • MALE
  • BILATERAL
  • may have 1-4 limbs affected
  • no finger nubbins
  • carpal bones normal
  • Associated with: EED (ectrodermal-ectrodactyly Dysplasia w clefting), eye, nail, teeth abnormalities
• Symbrachydactyly (thumbs up!)
  
  • U-shaped cleft
  • involves D2,3,4, leaving only D1/D5
  • hypoplasia/absence of ulnar digits
  • finger nubbins present
  • sporadic - no inheritance
  • UNILATERAL
  • only hands affected, normal legs/feet
  • carpal bones hypoplastic
  • Associated with POLANDS syndrome
• Common to both
  
  • transverse lying MC bones
  • triphalangeal thumb, Longitudinal Bracketed epiphyses (clinodactyly)
  • PIP flexion contracture (camptodactyly

Question 16

What are goals of treatment, treatment options and timing for both types of central deficiencies?

Answer 16

• CLEFT HAND
  
  • Goal: pinch, grasp
  • Timing: early syndactyly release. 1-2yo for correction of cleft
  • Excise transverse MC
  • Syndactylyl release
  • Close Cleft: Snow-Littler technique: volar skin flap from cleft for 1st web adduction contracture, DTML recon with A1 pulley radial/ulnar flaps, transposition D2 to D3 MC base
  • Thumb hypoplasia/absence recon
• SYMBRACHYDACTYLY
  
  • Goal: grasp
  • Timing: 4-5yo to consider 2nd toe trasnfer to D5 position
  • Excise finger nubbins
  • nonvascularized PP bone transfer for length
  • digit trasnposition to better position
  • free 2nd toe trasnfer to ulnar side of hand for grasp

Question 17

Failure of Formation; longitudinal intercalary deficiency; Phocomelia

What is the definition, etiology, clinical presentation, classification and treatment options

Answer 17

• Def: absence of segment between shoulde and hand - hand is normal in develop/presence of structures
• Etiology
  
  • Ass RF: thalidomide, smoking, anticoagulants, anticonvulsants
  • Associated with syndromes:
    
    • CLP, Holt Oram, TAR, Adontia-adactylyl
• Classification - Frantz (based on absent structure)
  
  • Complete - absence of arm+forearm
  • Proximal - absence of humerus
  • Distal - absence of radius/ulna
• Clinical presentation
  
  • BILATERAL commonly
  • presence of digital bones distinguishes from trasnverse arrest
• Treatment options
  
  • aimed at positioned hand better in space
  • osteotomies (rotational, lenthening)
    *

Question 18

How do you distinguish symbrachydactyly from transverse arrest?

Answer 18

• Nail plate (absent in arrest, present in Symbrachy)
• U-cleft in SB, non cleft in Arrest
• All digits are arrested at same level in Arrest (including thumb) but SB has different length digits

Question 19

What are causes of CTS in ediatric population?

Answer 19

• persistent median artery
• anomalous muscle FDS
• MPS (hurler syndrome)

Question 20

Failure of Differentiation: Arthrogryposis multiplex congenita

What is the definition, clinical presentation, classification, treatment options

Answer 20

• Definition
  
  • joint contracture and paralysis of extremities
• Clinical presentation
  
  • bilateral, symmetric, affecting both LE & UE
  • cylindrical/fusiform appearing limbs
  • absence of skin creases/joint dimples
  • muscle atrophy, fibrosis
  • Assocaited with brachycephaly, club foot, tarsal fusions, carpal fusions
• Classification: Weekes
  
  • Single localized: hand or UE: internal rotation, elbow extended, wrist flexed, pronated, ulnarly deviated, thumb in palm
  • Full expression: all limbs - as above for UE + shoulder adduction/internal rotation; LE hips adducted, internal rotated, knees flexed, club foot
• treatment options
  
  • Non-operative - splint, serial casting
  • Operative - tendon trasnfers, rotational osteotomies

Question 21

Failure of Differentiation: finger flexion deformities

• trigger finger
• clasped thumb

What is the definition, clinical presentation, classification (clasped only) treatment options

Answer 21

TRIGGER FINGER

• Def: IP flexion deformity - due to A1 pulley or flexor sheath deformity
• Clinical presentation: at birth or later, IP flexion deformity, palpable Nota’s node. Familial inheritance.
  
  • Cannot passively correct
  • Associated with trisomy 13
• No classification
• Treatment
  
  • 1/3 resolve if present at birth by age 1
  • 1/10 resolve if present after birth
  • If no resolution >3yo, release A1 pulley

CLASPED THUMB

• Def: MCP flexion deformity. Extensor lag at MCp +/-IP
• Clinical presentation
  
  • on spectrum of thumb hypoplasia
  • absence of EPB MOST COMMON
  • BILATERAL, familial association
  • Associated with windblown hand (ulnar flexion MCP deformity), Whistling face Freeman Sheldon (long philtrum, windblown hand, rocker bottom feet
• Classification: Weckesser
  
  • type1 - extensor lag only
  • type 2 - flexion contracture + extensor lag
  • type 3 - thumb hypoplasia
• treatment accoding to weckesser
  
  • Type 1 - abduction thumb splint 6mths, if no improvement=> EPB absent, do EIP transfer
  • Type 2 - FPL lengthen, MCP jt release or MCP arthrodesis
  • Type 3 - release adduction contracture, EIP for EPL, PL for APL

Question 22

Failure of Formation: Syndactyly

What is the etiology, epidemiology, clinical presentation, classification

Answer 22

• etiology:
  
  • Failure of AER, apoptosis, digital patterning
• Epidemiology:
  
  • most common Congenital hand anomaly (1:2000)
  • M:F 2:1
  • R>L
  • 50% bilateral (familial often bilat)
  • 25% inherited, AD with variable penetrance
• Clinical presentation
  
  • Patterns of Fusion: D3-4 > D4-5 >D3-2, >D2-1
  • Associated with 3 syndromes: Polands, Aperts, Acrosyndactyly
  • Associated with symbrachydactylyl, cleft hand/foot, toe syndactyly
  • Synonychia - fused Nail plate => complex
  • DIfferential motion fo DP =>simple
• Classification
  
  • incomplete or complete: complete from web to tip at DIPjt, incomplete longer web
  • simple or complex: simple sc only, complex fusion of bones
  • Complicated: additional bones, some synostosis

Question 23

Failure of Formation; Syndactyly

Discuss treatment timing, goals, staging, procedures

Answer 23

TIMING

• Early (6mth) if
  
  • fusion of different length digit (border)
  • complex
  • acrosyndactyly
• Later (12-18mths)
  
  • all others - not after 3yrs b/c cortex patterning instilled

GOALS

• as many functional digits as possible with fewest surgeries as possible
• early separation of border digits
• separation of nail plate, NV bundles, correct skeletal deformities
• wide deep webs

STAGING

• if multiple digits fused, staging to prevent ischemia, tension on closure
• Stage 1 - release D1-2, D3-4
• Stage 2 - release D4-5, D2-3

PROCEDURES

• DIGIT SEPARATION
  
  • Dorsal flap: midline of adjacent digits, length 2/3rd distance form MCP to PIP.
  • Synchronous dorsal and volar zigzag flap
  • FTSG to deficien areas
• Web deepening
  
  • Incomplete web: 3 flap webplasty (dorsal flap with interdigitating Z flap), 4flap z plasty, double opposing Zplasty
  • 1st web: as above + FDMA, dorsal skin flap, regional flap
• Nail plate separation
  
  • excision of central portion and 1’ closure
  • Buck gramco laterally based triangular tip flaps

Question 24

Failure of formation: Acrosyndactyly

What is the definition, clinical presentation, treatment

Answer 24

• Def: fenestration (sinus) proximally in web and distal fusion
• Clinical presentation
  
  • bilateral
  • Associated with constriction band syndrome
  • may have complex fusions
• Treatment
  
  • as syndactyly except timing early at 6mths

Question 25

Failure of formation: Apert hand

What is the definition, classification and treatment

Answer 25

Def: complex synctalyly pathognomonic for Aperts =>fusion of D2,3,4 into central mass and D1/5 may be invovled. Thumb, if separate, radially deviated

Classification: Upton

• Accoding to 1st and 4th web and central mass
• Type 1
  
  • 1st&4th web: incomplete simple syndactyly
  • Central mass - flat, good MCPs, IP symphalangism, no synonychia
• Type 2
  
  • 1st&4th web: complete simple syndactyly
  • Central mass - concave, synonychia with distal fusion of DPs and proximal splaying of MC
• Type 3
  
  • 1st&4th web: complete complex syndactyly
  • Central mass - thumb incorporated, tight cupping, synonychia, D2 ray skeletal abnormalities

TREATMENT according to Upton’s Type

• Type 1-2, stage
  
  • Stage 1 - thumb corrected position w ostetomy and release 2nd and 4th web to create 3 digits
  • Stage 2 - release remaining digits
• Type 3
  
  • separate synonychia first (multiple infx risk)
  • then stage as above

Question 26

What are the functional joints in Aparts complex syndactyly?

Answer 26

MCPs and D5 DIP

Question 27

Failure of Differentiation: Cmaptodactyly

What is the definition, etiology, clinical presentation, classification, differential diagnosis, treatment options

Answer 27

• Def: congenital PIPj flexion contracture
• Etiology
  
  • unknown - Macfarlane hypothesized lumbrical anomalous insertion on D5 PP to act as flexor not extensor of IP
• Clinical presentation
  
  • 2/3 bilateral,
  • AD w variable penetrance
  • may be congenital or acquired
• Classification
  
  • Reducible or not
  • congenital or acquired
  • Type 1 - congenital - present at birth, isoalted, usually just D5
  • Type 2 - acquired - presents in preadolescent
  • Type 3 - severe - associated w syndrome
• DDX
  
  • marfans, juvenile palmar fibromatosis
  • arthrogryposis, symphalangism, trigger finger
  • Beals syndrome (congenital contractural arachnodactyly
• Treatment
  
  • Non-op - most
    
    • splinting, serial casting. Usual <30’ can be corrected non-op
  • Operative - if >90 flexed, failed conservative
    
    • FDS trasnfer to extersor apparatus
    • lumbrical release
    • arthrodesis

Question 28

What are 4 features on xray of camptodactyly?

Answer 28

LATERAL XRAY

• flat dorsal head of PP
• exaggerated recess neck of PP
• narrowed PIP joint space
• volar base beak on MP

Question 29

Failure of Differentiation: Symphalangism

What is the definition, clinical presentation, classification, treatment

Answer 29

• Definition; congenital stiffness of IPjts, most commonly PIP
• Clinical presentation
  
  • AD
  • ulnar digits most common D5>D4>D3>D2
  • due to poor formation of joint surfaces and resulting ankylosis - usually stiff/fused in extension
  • poorly formed MP
• Classification - Flatt
  
  • type 1 - true symphalangism - stiff w normal Phalangeal length
  • type 2 - symbrachydactyly - most common - stiff w shortened length
  • type 3 - symphalangism w assocaited abnoralities (clinodactyly, hearing defect)
• Treatment
  
  • non-op - not effective
  • Operative; fusion in correct position

Question 30

Failure of differentiation: clinodactyly

What is the definition, etiology, prsentation, classification, treatment?

Answer 30

• Def: Angular deformity due to abnormal phalageal growth (longitudinal bracket epiphysis)
• Etiology
  
  • epiphysis abnomrally present along diaphysis (C- J- shaped) leading to abnormal growth (delta phalanx)
• Presentation
  
  • AD, inherited forms usually bilateral
  • D5 MP and D1 PP most common location
  • most comomn radial deviation D5 MP
  • Rarely in isolation
  • Assocaited with symphalangism, polydactyly, syndactyly, Polands, CLEFT foot
  • Associated with syndromes Apert/Pfeiffer (=>thumb delta phalanx), Downs (D5 delta phalanx)
• Classification - Cooney
  
  • ​type 1 - simple - bone <45’angulation
  • type 2 - simple complicated - bone >45’
  • type 3 - complex - bone and ST deformity <45’ & syndactyly
  • type 4- coplex complicated - bone & ST deformity >45’ & polydactyly /gigantism
• Treatment
  
  • non-op not effetcive
  • OPeratie - only if >45’ and functional/cosmetic defomrity
  • Osteotomies - closing/opening wedge, rotation, reversed

Question 31

Failure of differentiation: triphalngeal thumb

What is the defintion, features, associations treatment

Answer 31

• Def: hypersegmentation anomaly - 3rd phalanx
• Features
  
  • abnormal phalanx
  • web contracture
  • thenar hypoplasia
• Associated with
  
  • Holt Oram, polydactyly, blood dyscrasias, cleft foot
• Treatment
  
  • at 12mths
    
    • resect phalanx, deepend 1st web, opponenplasty if required later

Question 32

How do you classify polydactyly

Answer 32

Stelling

Type I - extra soft tissue mass only

Type 2 - extra whole digit articulating with MC/P

Type 3- extra whole digit articulating w EXTRA MC

Crossed polydactyly - invovles hand and feet

Mixed polydactyly - invovles both ulnar/radial

Question 33

What is central polydactyly and treatment

Answer 33

• duplicate central digit, most ofeten assocaited with SYNDACTYLY
• most common ulnar digits
• frequent bilateral +/- feet
• Treatment
  
  • carry out normal syndactyly release, recon DTML

Question 34

Duplication - Post axial polydactyly

What is the definition, epidemiology, classification, treatment

Answer 34

• Def: duplication of little finger
• Epidemiology
  
  • cited as most common congenital hand anomaly
  • most common polydactyly
  • frequently bilateral
  • 8x more common in africans
  • can be isolated, AD or syndromic, AR
• Classification - McKusick, Stilling, Temtamy
  
  • TYpe A - well developed digit
  • Type B - rudimentary digit (no bone articulation)
• Treatment
  
  • after 6months
  • Goals: remove extra digit, rebalance ST/jt/tendons
  • Type A: excise ulnar-most digit, reattach UCL/hypothenar muscles

Question 35

Duplication: Ulnar dimelia

What is the definition, clinical presentation, treatment goals and procedure

Answer 35

• Def: charcaterized by absent radius and two ulnae, 7-8 digits and no thumb
• Clinical presentation
  
  • usually soradic, unilateral
  • if inherited, bilateral +/- associated with fibular dimelia
  • stiff elbow, flexed wrist, poor pron/sup
  • duplicated ulnar carpal bones
  • stiff IP joints
  • bifucated flexor tendons shared by digits
  • 2 ulnar arteries joined by one superficial palmar arch
• Treatment goals
  
  • correct elbow stiffness
  • improve pronation/supination
  • improve wrist stiffness
  • create thumb and webspace
  • remove multiple digits
• Treatment steps
  
  • preaxial ulna resected subperiosteally at elbow joint
  • tendon lengtheing of flexors and transfer to extensors
  • pollicization of pre-axial digit
  • amputation of other excess digits

Question 36

Overgrowth: Macrodactyly

What is definition, clinical presentation, DDX, associated syndromes, treatment

Answer 36

• Definition: overgrowth of all structures in digit
• Clinical presentation
  
  • usually single digit or 2-3 digits adjacent to one another
  • may be static (large at birth) or progressive (more commonly, faster gorwth rate compared to other digits)
  • Unilateral, right
  • most common index, long
• DDx
  
  • macrodactyly, hemihypertrophy, Vascular malformation, lymphatic malformation, neurofibromatosis, proteus
• Associated syndromes
  
  • neurofibromatosis, lipomatosis
  • Maffucci, Ollier (high maignant potential)
  • Klippel trenaunay
  • Proteus (hamartomatous dysplasia, hemihypertrophy, feet/hand macrodactyly, parotid/ovarian tumor, CLVM)
• Treatment
  
  • Ray amputation (preferred if non-fx)
  • debulking (not effective)

Question 37

Congenital ring syndrome

What is the etiology, clinical presentation, associations, classification, treatment

Answer 37

• Etiology
  
  • external - amnion band constricting limb
• Clinical presentation
  
  • all sporadic
  • most commonly afftect index/long fingers
  • proximal tissues form the band are normal
• Assocaited with Oligohydramnios, prematurity
• Classification: Patterson
  
  • ​Type 1 - shallow band
  • Type 2- deep band with distal lymhedema
  • Type 3 - distal fusion of structures (acrosyndactyly)
    
    • A- fusion of tips
    • B- fusion of tips and incomplete web formation
    • C- just fenestration in web
  • Type 4 - intrauterine amputation
  • Type 5 - mixed
• Treatment
  
  • Type A: for cosmesis - excise and release band w zplasty. Need to monitor for acute edema/impedending tissue loss
  • Type B : ass. w edema, neuro deficit; release band w zplasty, consider staged doing 1/2 at a time
  • Type 3 - treat as acrosyndactyly, earile than 12m

Question 38

Generalized skeletal abnormalities: Madelung’s deformity

What is the definition, presntation, assocaitions, xray findings, treatment

Answer 38

• Def: congenital abnormal groth of radius physis at the volar ulnar aspect of the distal bone
  
  • = dorsal subluxation of ulna
  • = volar ulnar subluxation of carpus
• Presentation
  
  • usually in adolescence with wrist pain/stiffness, limited supination, extension
  • females, sporadic, bilateral
  • P/E: carpus volar ulanr, ulna dorsally subluxed, limited supination, limited finger extension/EDC rupture, +/- CTS
  • Xray: Radial volar angulation of radius and ulna dorsal subluxation
• Assocaited w:
  
  • kienbock, achondroplasia, ollier, MPS
• Treatment
  
  • tx at skeletal maturity if possible adn symptomatic
  • jt leveling procedure
  • partial/total radiocarpal arthrodesis
  • radioulnar arthrodesis