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Flashcards in Congenital Hand Deck (76):
1

What is this?

Q image thumb

Cleft hand (central)

characterised by the absence of 1 or more Central digits of the hand /foot

Swanson type 1=  failure of formation= longitudinal arrest of CENTRAL RAY-> V shaped cleft in centre of hand

2

What are the types of cleft hand?

Unilateral vs Bilateral

Isolated vs Syndromic

3

What is the epidemiology of cleft hand?

Rare 1 :10,000 to 1 :90,000 births

Males 5:1 females

location- hands usually BILATERALLY

assoc with ABSENT METACARPALS ( helps diff symbrachydactyly)

Missing MIDDLE FINGER

Small finger always present

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4

What is the pathogenesis of cleft hand?

What is the genetics pattetn of cleft hand?

Wedge shaped degeneration of Central part of Apical Ectodermal ridge (AER) because of loss of function of certian genes expressed in that part of AER

Genetics

Autosomal dominant with reduced penetrance 70%

affected families go thru genetics counselling

5

Can you name any associated conditions of cleft hand?

Ectrodactyly- ectodermal dysplasia- cleft- ECC syndrome

triad of ectrodactyly ( loss central finger) ectodermal dysplasia and facial clefts

Sensorineural hearing loss

Syndactyly (Together/ 2 or more digits fused)

Polydactyly ( Many digits)

6

What is the prognosis of cleft hand?

Depends on Involvement of 1st webspace

Aesthetically displeasing but not functionally limiting

7

Can you name the classification system of cleft hand?

Manske and Halikis

KEY - 1st web space 

1= normal web- thumb space not narrowed

2A= mildly narrowed web- thumb space midly narrowed

2B= Severly narrowed WS-thumb space severly narrowed

3= Syndactyly web- thumb/index web syndactylised

4= Merged web- thumb ws merged w cleft

5= Absent Web- thumb space no longer

see link below for pictures

http://www.orthobullets.com/hand/6072/cleft-hand

8

What are the signs and symptoms of cleft hand?

Symptoms

aesthetic limitations

functional limitations

O/E

Absent or shortened central ( third) ray

may have absent radial digit

may have syndactyly of ulnar digits

9

What are the Investigations of cleft hand?

xrays- ap , lateral and oblique of bilateral hands

Foot xrays if involved

A image thumb
10

What are the TX of cleft hand?

NonOperative: Observations-

in Manske and Halikis type 1 (normal wb) & 4 (merged WB)

Operative: aim to improve hand function - ability to grasp, pinch and let go of objects, improve asthetics

Thumb web space, thumb and central cleft reconstruction  in Manske and Halikis types 2A, 2B, 3 & 4

11

Describe  the techniques for surgical tx of cleft hand?

Thumb, web space reconstruction

web space deepening, tendon transfer, rotational osteotomy , toe- hand transfer

Thumb reconstruction has greatest priority over cleft closure

Thumb reconstruction shouldn't precede cleft closure - comprise skin flaps

Central cleft reconstruction

Depends on type of web space

Close cleft with tissue proper form cleft and stabilise adn close intermetacarpal space

12

What is  Symphalangism?

Congential digital STIFFNESS/ ANKYLOSIS of IPJ either

Hereditary symphalangism

Non hereditary symphalangism

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13

What is the Epidemiology and pathophysiology of Symphalangism?

More common in ulnar digits

Pathophysiology

it is failure of the IP joints to differentiate during development

14

What is the genetic pattern of symphalangism?

Can you name any associated conditions?

Autosomal Dominant

Syndactyly (nonheritary)

Apert's syndrome ( nonh)

Poland's Syndrome ( nonH)

Correctible hearing loss ( Hereditary)

15

What are the signs of symphalangism?

Absence of FLEXION or EXTENSION Skin Creases

Stiff digits

see pic- long finger effected - no skin crease at pipj

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16

What investigations are helpful in symphalangism and what do you see?

Xrays- IPJ narrow

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17

What are the tx of symphalangism?

Non operative- Observation- in children

Operative

Capsulectomy- limited success

IPJ arthroplasty- Limited success

Angular osteotomy- rarely required due to adequate digitial function

Arthrodesis- considered in adolescent to improve function and cosmesis- rarely required due to adequate digital function

18

What is this?

Q image thumb

 Camptodactyly

Congential digitial flexion deformity of PIPJ of small finger

19

What is the Epidemiology of Camptodactyly?

<1%

Unilateral or Bilateral 

If bilateral can be symmetrical or assymetrical

A image thumb
20

Describe the pathophsyiology of camptodactyly?

What is the genetics of camptodactylyl?

Abnormal lumbrical insertion/origin

Abnormal extensor hood

Abnormal volar plate

Skin, subcutaneous tissue or dermis contracture

 

 

Genetics

Sporadic

 

21

What is the classification of Camplodactyly?

Type 1- In Infancy M=F most common form

Type 2- Adolescence F>M

Type 3- Multiple digits involved. > severity

Kimer's Deformity-specific deformity little finger, preadolsecent Girls, bilateral, usual no functional deficit

22

What are the symptom and signs of Camplodactyly?

Symptoms

Often go unnoticed as usually affects small finger, Rarely affects function

typically painless without motor/sensory loss

 O/E

FLEXION DEFORMITY of small finger PIPJ

Fixed vs flexible deformity

Worsens during growth spurts

23

What is the tx Camplodactyly?

Normal Xrays

Non operative: Passive stretching+ static splinting

For most cases, best for contractures <30 degrees

Outcome- variable, better with early intervention

Operative

FDS Tenotomy +/- FDS transfer ( to radial lateral band if full active PIPJ extension can be achiveved with MCP flexion- for progressive functional impairment- flexible deformities

Osteotomy vs Arthrodesis- severe fixed deformities

24

What is this?

Q image thumb

Clinodactyly, from the greek- clino-"bent"

Congential curvature of digit in RADIOULNAR plane

Found 25% of Down's syndrome , 3% general population

25

What is the pathoanatomy of Clindodactyly?

Autosomal Dominance

Middle phalanx of small finger most commonly affected

26

What is the Classification of Clinodactyly?

Type 1- minor angulation with normal length- most common

TYpe 2 - minor angulation with short length

Type 3- Significant angulation and delta phalanx- c shaped epiphysis and longitudinal bracketed diaphysis)- see pic

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27

What are the Symptoms of Clindodactyly?

What is seen on xray?

Function rarely compromised- ADL effected when deformity reaches 30-40 degrees

C shaped Physis-> Delta Phalanx

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28

What is the Tx of clinodactyly?

Non operative- Observation- most cases

Operative

Phalanx opening wege osteotomy +/- Bone excision

In type 3 delta phalanx, when deformity enroaches digital space of neighbouring short digit technique

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29

What is this?

Q image thumb

Syndactyly- from greek - "together"

where 2 or more digits are fused together

Most common congential malformation of the limbs

30

What is the Epidemiology of Syndactyly?

1 in 2,000- 2,500 live births

M>F

Causicans > African Americans

50% long- ring finger

30% ring- small finger

15% index- long finger

5% thumb- indes

31

What is the Pathophysiology of Syndactyly?

What is its Genetics?

Failure of apoptosis to separate digits

 

Autosomal dominance in pure syndactyly

Positive FHx in 10-40% cases

32

Name some associated conditions with Syndactyly?

CHAAP

Acrosyndactyly- see pic- digits fuse distally and proximal digit has fentrations ( constriction ring syndrome)

Poland Syndrome (chest wall deformity/limb hypoplasia)

Apert Syndrome (AutoDom w mental retardation,craniosynostosis)

Holt-Oram sydnrome ( heart and limb abn)

Carpenter syndrome- acrocephalopolysyndactyly

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33

What is the classification of Syndactyly?

1)Simple- only soft tissue, no bony involvement

2)Complex- Side to side fusion of adj phalanges, involves bones

3) Complicated- accessory phalanges or abnormal bone involved in fusion

Complete vs incomplete

Complete = skin extends to finger tips

incomplete- skin doesn't extend to fingertips

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34

What is the Tx of syndactyly?

Describe the technique?

Operative

Digital Release if syndactyly preform at 1 yr

acrosyndactyly- preform in neonatal period

Technique

If mutlple digits are involved preform in 2 stages to avoid compromising vasculature

Release digit with significant length differences ti avoid growth disturbance

Zigzag flaps are created during release to avoid LONGITUDINAL scarring

 

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35

What are the complications of syndactyly?

Web Creep-  most common complx of surgical tx- distal migration and scarring in the comissure between the fingers that -> recurrence of syndactyly

Tx by reconstruct web space with local skin flaps

Nail deformities

A image thumb
36

What is this?

Q image thumb

Poland Syndrome

A congential disorder characterise by

Unilateral chest wall hypoplasia- due to absence of Sternocostal head of Pect Major

Hypoplasia of hand /forearm

Symbrachydactyly & shortening of middle fingers ( Absent/shortening of middle phalanx)

Simple incomplete syndactyly of short digitis

37

What is the epidemiology of Poland Syndrome?

1 in 32,000 live births

occurs 10% syndactyly cases

M> F

Right side of body cf left

38

What is the etiology of poland syndrome?

Thought to be linked to Subclavian Artery Hypoplasis

39

What are the signs of Poland Syndrome?

Chest

Hypoplasia/ absent Pect major. pect minor, deltoid, serratus ant, ext oblique, lat dorsi

Sprengel's deformity

Scoliosis

Dextracardia

Absent/underdeveloped breasts

 

Hand deformities

Symbradydactyly- see pic

Hypoplasia/ Absent Metacarpals or phalanges

Absent extensors/ flexor tendons

Capral coalition/ hypoplasia

Radioulnar synostosis

Nail agenesis

 

A image thumb
40

What investigations are useful in Poland syndrome?

Ct- shows absent Pectoralis major, costal cartilage and rib absences. ( see pic)

A image thumb
41

What is the TX for Poland syndrome?

Operative

Syndactylyl release- preformed in most patients

complete syndactyly release- > skin deficiency requiring skin grafting

Perform one side of the digit at the time to avoid vascular compromise

local flap is created by commisure reconstruction by interdigitating zigzag dorsal and palmar flaps along medial and lateral aspect of the digit.

42

What are the Complications of Poland's syndrome tx?

Skin graft failure

Excessive tension

Improper flap planning

Digital artery injury

Web creep

Nail deformity

43

What is this ?

Q image thumb

Apert's Syndrome

A congential syndrome characterised by

Bilateral complex syndactyly of hands/feet

Symphalangism- ankylosing IPJ

premature fusion of cranial sutures- craniosynostosis-> falttening skull/ broad forehead ( acrocephaly)

Hypertelorism ( wide set eyes- increased distance)

Normal to moderate congential function

Glenoid hyperplasia

Radioulnar synostosis

44

What is the genetics of Apert's syndrome?

Autosomal Dominant

Mutation of Fibroblast Growth Factor receptor 2

FGFr2-gene

45

What is the epidemiology of Apert's syndrome?

What is Apert's syndrome prognosis?

Incidence is 1/80,000

Spectrum of normal to moderately disabled cognitive function

46

What are the signs of Apert's syndrome?

Dysmorphic face- craniosynostosis

Rosebud hands- complex syndactyly where the index, middle and ring finger share common nail

A image thumb
47

Describe investigaitons in Apert's syndrome?

Xrays= comples syndactyly

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48

What is the Tx of complex syndactyly in Apert's Syndrome?

Operative

Surgical release of border digits- preform at 1 yr

Digit reconstruction- preform 1.5 yrs to convert central 3 digits to 2

49

What is polydactyly?

What forms exist?

A congential malformation of the hand- involving duplication of digits

3 forms exist:

Preaxial polydactyly= Thumb Duplication

Postaxial polydactyly= Small finger Duplication

Central Polydactyly

50

Describe the epidemiology of preaxial polydactylyl?

1 per 1,000 to 10,000 live births

Type 4 most common - 43%

Type 2- second most -15%

Normally Unilateral and sporadic

Except type VII which is associated with several syndromes

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51

Describe the syndromes associated with  type VII preaxial polydactyly?

HOF BICT

Holt-Oram syndrome

Fanconi's anaemia

Blackfan-Diamond anemia

Imperforates anus

Cleft palate

Tibial defects

52

Describe the Classification of Pre-axial Polydactyly?

Wassel- think W of thumb

Type 1- Bifid distal phalanx

Type 2- Duplicated distal phalanx

Type 3- Bifid Proximal Phalanx 

Type 4-Duplicated proximal phalanx- most common

Type 5- Bifid Metacarpal

Type 6 - Duplicated Metacarpal

Type 7- Triphalangia

(Distal P/prox p or mc remains duplicated after the next deformity progressses proximally)

A image thumb
53

What are the goals of Tx in pre-axial polydactyly?

  • To construct a thumb that is 80% size of contralateral thumb
  • Resect a smaller thumb (usually radial component)
  • Preserve/reconstruct medial collateral structures in order to preserve PINCH function
  • Reconstruction of all components typically done in one procedure

54

Describe the Tx of pre-axial polydactyly?

  • Type 1 combination- Bilhaut- celoquet for type 1,2,3 Removes central tissue & combining both digits into one - approx 20% have late deformity. complx- stiffness, angular/size/nail deformity , growth arrest
  • Type 2 comb0-type 3/4 aim to preserve skeleton & nail of one component and augment with soft tissue from other digit & ablation of lesser digit ( radial)
  • Type 3- type 5,6,7-used when 1 digit has superior proximal component and 1 digit has superior distal fragement- do a segmental distal transfer

55

Describe the epidemiology of post axial polydactyly?

Small finger duplication

10X more common in African Americans

Inherited as Autosomal Dominant

More complex genetics in Causicans- genetics required- assoc with chondroectodermal dysplasia / ellis- van Creveid syndrome

56

Describe the classificatio of post -axial polydactyly?

  • Type A- Well formed digit
  • Type B- Rudimentary skin tag (vestigial digit)

57

Describe the tx of Tx of type A post axial polydactyly?

Q image thumb

 Formal reconstruction by

  • Preserve radial digit
  • Preserve or reconstruct collateral ligaments from ulnar digit remanant
  • Preserve muscle

 

58

Describe the Tx of type B post -axial polydactyly?

Q image thumb

Tie off in nursey/ampuation before 1 yr old

59

Can you describe the eipdemiology of central polydactyly?

Q image thumb

Commonly associated with syndactyly

60

What is the Tx of central polydactyly?

Q image thumb

Osteotomy and ligament reconstruction- perform early to prevent angular growth deformities

61

What is this?

Decribe its epidemiology?

Q image thumb

Macrodactyly- non hereditary congential digit enlargement- all structures of digit enlarged

  • V rare
  • 90% unilateral
  • 70% involve > 1 digit
  • Index finger involved more frequently
  • index, then thumb, ring and small
  • Unknown risk factors

62

Can you describe the pathyphysiology?

Etiology unknown

No genetic predisposition

Affected digits- neurological innervation- particularly Median N

63

Can you name any associated conditions of Macrodactyly?

Lipfibromatous hamartoma of the median nerve

Proteus syndrome

Maffucci's syndrome

Ollier's syndrome

Milroy's disease

 

64

What is the classification of Macrodactyly?

If STATIC - present at birth- growth is linear

If Progressive- not as noticeable at birth but worsens over time

65

What are the signs and symptoms of macrodactyly?

Symptoms:

Pain

Inablilty to use the digit

Cosemesis

Signs;

Thick, fibrofatty tissue enlarged digit

ROM and stability reduced due to soft tissue constraints

 

A image thumb
66

What investigations are useful for Macrodactyly?

Xrays- Biplanar

Enlarged Phalanges- may see enlargement of joints/angles phalanges

Ct/MRI not typically required

 

 

67

Can you describe the tx of macrodactyly?

Non operative

Observation in some cases

Operative:

Epiphysiodesis - for single digit/ preform when adult size of digit cf same sex adult- aim for early rom and soft tissue care

Osteotomies and shortening procedure- for thumb involvement, mutiple digit involvementa and severe deformity

Amputation- severe involvment- non reconstruction digit

68

What are the complications of Macrodatyly?

Digital stiffness

Chronic digital pain and oedema

69

What is this?

Q image thumb

Constrictive ring syndrome

A malformation due to intruterine rings/bands which constrict fetal tissue

The anatomy proximal to constrition is normal.

Aka Streeter's dysplasia

70

What is the epidemiology of constrictive band syndrome?

Incidence= 1/1200 and 1/15000 live births

M=F

Location- usually affects distal extremities

Hand and fingers 80% time

Rare for only one ring to be present as an isolated malformation

Genetic- sporadic no heredtary predisposition

Risk factors

Prematurity

Maternal illness

Low birth weight

Drug exposure

71

What is the pathoanatomy of Constrictive band syndrome?

Exact Aetiology UNKNOWN theories include

  • intrauterine disruption oduirng pregnancy
  • Intrauterine trauma
  • Intrinsic anomaly in germ plasm resulting in the defects
  • * most accepted= disrupted amnion releases fibrous membranous strands which wrap around the developing limb in a circumferential fashion

72

Name associated conditions with constrictive band syndrome?

Club foot - most common

Syndactyyly

73

Name a classification system for constrictive band syndrome?

Patterson Classificarion

  • Type 1=Simple Constriction rings- mild ring w no distal deformity/lymphoedma
  • Type 2= Rings with distal deformity- ring may cause distal lymphoedema in assoc w deformity
  • Type 3- Acrosyndactyly- fusion between more distal portions of the digits with the space between the digits varying from broad to pinpoint- see pic
  • Type 4= Amputation-  loss of limb distal to ring

link to photos of all types http://www.orthobullets.com/hand/6081/constrictive-ring-syndrome

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74

What are the signs of Constrictive band syndrome ?

Diagnosed at birth- intrauterine dx wih USS at end of forst trimester

Check for pulses and perfusion

75

What is the TX of Constrictive band syndrome?

Non operative- type 1 observe

Operative

Type 1 w compromise digital circulation= Excision or release of constriction bands

Type 2 w distal deformities= Surgical release with multiple circumfernetial Z plasties- 

Type 3 w distal fusions - surgical release of syndactyly

Type 4- reconstruction of involved digit or limb- lengthening of bone/deepening of web space

Intrauterine band release- can be done if risk of limb ampuation- v rare

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76