Congenital anomalies of upper and lower limb

1. CONGENITALANOMALIES
OF UPPER AND LOWER LIMB
MOHAMMAD AZHARUDDIN
MPT 2ND SEMESTER

2. CONGENITALANOMALIES
OF LOWER LIMB

3. DEVELOPMENTAL DYSPLASIA
AND CONGENITAL
DISLOCATION OF HIP

4. • Developmental dysplasia of the hip (DDH): Inadequate development of the
hip with impaired ossification of the lateral acetabular epiphysis.
• Congenital dislocation of the hip (CDH): Displacement of the femoral head
from its central position in the acetabulum.
• MALE : FEMALE = 4:1
• 60% bilateral presentation.

6. ETIOLOGY AND PATHOGENESIS
• Dunn et al in 1996 differentiated two types of hip dysplasia.
- General joint hypermobility.
- Dysplasia of the acetabulum.
• As the femoral head starts to dislocate from its central position, this
exerts pressure on the lateral acetabular epiphysis, causing
ossification and growth to be delayed.
• As the displacement progresses, the femoral head comes out of the
acetabulum usually in a craniodorsal direction.
• Shortening of iliopsoas muscle.
• Elevated position of the femoral head causes shortening of the leg.
• Hip abductors and extensors become weakened.
• Flexion contracture of the hip and trendelenburg sign.
• Hyperlordosis of the lumbar spine.

7. • The acetabulum is often shallow and maldirected.
• The proximal femur shows antetorsion and coxa valga.
• The iliopsoas tendon is insinuated between the femoral head
and acetabulum, causing a depression in the joint capsule. This
gives the capsule an hourglass configuration.
• The acetabular labrum is inverted into the joint, the
ligamentum teres is enlarged, and the acetabulum may contain
fat (pulvinar).

9. EVALUATION AND
EXAMINATION
• HISTORY :
• Family history of hip dysplasia or premature osteoarthritis.
• Breech presentation.
• Amniotic fluid deficiency.

10. EXAMINATION..
INSPECTION :
• Asymmetry of skin folds.
• Leg length examination.

12. • PALPATION :
• Examination according to Ortolani.
• Examination according to Barlow.
• Examination of abduction (limited in first 3 months of life in
dislocated and subluxated hip).
• Examination of the ROM.
• Ludloff’s dislocation sign.
• Telescoping sign.
• Mother’s intuition.
• NOTE : Ortolani and the Barlow sign remain positive for
approximately 4 weeks in an unstable hip, and cannot be elicited
thereafter regardless of the hip condition.

13. Ortolani test

15. • The signs of DDH change with the infant's age. For example,
the incidence of hip instability declines rapidly, 50% within
the first week. The classic findings of stiffness and shortening
increase over the first few weeks of life. These signs become
well established in the older infant.
CHANGING MENIFESTATIONS OF
DDH

16. RADIOGRAPHIC DIAGNOSIS
• Only the AP view is recorded.
• Hilgenreiner line.
• Ombredanne line, perkin line.
• Shenton and menard line.
• Acetabular roof angle.

19. • ARTHROGRAPHY OF THE HIP :
- Hip arthrography is suitable for evaluating the cartilaginous
sections of the hip, the ligament of head of femur and other
soft tissues.
• ULTRASOUND EXAMINATION
- See alpha and beta angles.

20. MANAGEMENT
The objectives of management :
• include early diagnosis
• reduction of the dislocation
• avoidance of avascular necrosis, and
• correction of residual dysplasia.

22. MAINTENANCE OF REDUCTION
• Plaster cast- Frog leg or Lorenz cast, Bachelors cast.
• Splints- Von Rosen Splint

26. Cooper, A. P., Doddabasappa, S. N., & Mulpuri, K. (2014). Evidence-based management of
developmental dysplasia of the hip. Orthopedic Clinics, 45(3), 341-354.
EVIDENCE-BASED MANAGEMENT OF
DEVELOPMENTAL DYSPLASIA OF THE
HIP

27. Cooper, A. P., Doddabasappa, S. N., & Mulpuri, K. (2014). Evidence-based management of
developmental dysplasia of the hip. Orthopedic Clinics, 45(3), 341-354.

28. Cooper, A. P., Doddabasappa, S. N., & Mulpuri, K. (2014). Evidence-based management of
developmental dysplasia of the hip. Orthopedic Clinics, 45(3), 341-354.

29. Cooper, A. P., Doddabasappa, S. N., & Mulpuri, K. (2014). Evidence-based management of
developmental dysplasia of the hip. Orthopedic Clinics, 45(3), 341-354.

31. 6 to 18 MONTHS
• In this age group, most cases of DDH can be managed by
closed reduction and spica cast immobilization

33. HOME TRACTION
may be useful if the hip is
stiff and closed treatment is
planned.

34. 18 to 30 MONTHS
• In this age group, operative
management is usually required.
• After operation, the hip is held
in a plaster spica for 3 months
and then left unsupported to
allow recovery of movement.
The child is kept under
intermittent clinical and
radiological surveillance until
skeletal maturity.

36. Acetabular reconstruction
• SALTER’S OSTEOTOMY:
- Osteotomy of iliac bone.
- Acetabulum becomes more horizontal, and thus covers the head.
• CHIARI’S PELVIC DISPLACEMENT OSTEOTOMY:
- Iliac bone is divided almost transversely immediately above the
acetabulum, and lower segment is displaced medially.
• PEMBERTON’S PERICAPSULAR OSTEOTOMY:
- The roof of the acetabulum is deflected downwards

37. 30+ MONTHS
• Reduction and stabilization become increasingly difficult with advancing
age. Nevertheless, in children between 4 and 8 years – especially if the
dislocation is unilateral – it is still worth attempting, bearing in mind that
the risk of avascular necrosis and hip stiffness is reported as being in excess
of 25 per cent. The principles of treatment are as described immediately
above.
• Unilateral dislocation in the child over 8 years often leaves the child with
a mobile hip and little pain. This is the justification for non-intervention,
though in that case the child must accept the fact that gait is distinctly
abnormal. If reduction is attempted it will require an open operation and
acetabular reconstruction.
• With bilateral dislocation the deformity – and the waddling gait – is
symmetrical and therefore not so noticeable; the risk of operative
intervention is also greater because failure on one or other side turns this
into an asymmetrical deformity. Therefore, in these cases, most surgeons
avoid operation above the age of 6 years unless the hip is painful or
deformity unusually severe. The untreated patient walks with a waddle but
may be surprisingly uncomplaining.

38. COMPLICATIONS
• Failed reduction.
• Avascular necrosis.

39. TERATOLOGICAL HIP DISLOCATION
• Dislocation of one, or usually both, hips at birth as a result of
malformations rather than immaturity of the joints, and
associated with other deformities.
• Typical concurrently occurring deformities are: Torticollis ,
plagiocephaly (32%), arthrogryposis , Larsen syndrome ,
general ligament laxity , flat feet, club feet, proximal femoral
focal deficiency, congenital knee dislocation, pyloric stenosis,
renal agenesis and orchidocele.
• extremely rare.
• Management: same as like for DDH.

40. PROXIMAL
FEMORAL FOCAL DEFICIENCY
• The spectrum of malformations of the femur range
from a slight shortening to complete absence of the
whole femur. If a deformity or defect of the femur
exists, the proximal part is always affected as well,
hence the description of ▬ proximal femoral focal
deficiency.

41. • ETIOLOGY
• Proximal femoral focal deficiency occurs as a result of a noxious event
(viral infection, drug, radiation, anoxia, ischemia, mechanical factor, etc.)
between the 4th and 9th week of pregnancy.
• The duration of action and aggressivity of the noxious event determine only
the extent of the lesion rather than its location.
• ASSOCIATED ANOMALIES
• Fibular hemimelia 70-80%
• Agenesis of cruciate ligaments of the Knee
• Clubfoot
• Congenital heart anomalies
• Spinal dysplasia
• Facial dysplasia

42. • INCIDENCE
• 3rd most common longitudinal deficiency of lower extremity.
• Bilateral involvement is seen in 50%.
• One per 50,000 live births.
• Maternal diabetes has been implicated in femoral hypoplasia.
• PRIMARY CLINICAL PROBLEMS
• Limb length inequality
• Proximal joint instability
• Malrotation
• Weakness of the proximal musculature

43. • TREATMENT
The following treatment options are available:
• shoe elevation
• orthotic provision
• prosthetic provision
• realignment osteotomies
• implantation of the femoral stump in the femoral head
• arthrodesis of the stump with the acetabulum in combination with a
Chiari pelvic osteotomy
• arthrodesis of the knee with preservation of the growth plates
• surgical leg lengthening
• rotationplasty
• amputation.

44. CONGENITAL COXA VARA
• Probable hereditary disorder with abnormal varus position of the
femoral neck with or without pseudarthrosis.
• It is due to a defect of endochondral ossification in the medial part
of the femoral neck.
• When the child starts to crawl or stand, the femoral neck bends or
develops a stress fracture, and with continued weightbearing it
collapses increasingly into varus and retroversion.
• As the child grows, the proximal femur keeps elongating but the
neck–shaft angle goes into increasing varus.
• OCCURRENCE
• This is a very rare disorder (1:25,000).
• Both sides are affected in around 30% of cases.
• associated with an increased familial occurrence.

45. • Clinical features
• The condition is usually diagnosed when the child starts to
walk.
• The leg is short and the thigh may be bowed.
• X-rays show that the femoral neck is in varus and
abnormally short.
• Because of the distorted anatomy, it is difficult to measure
the neck– shaft angle. A helpful alternative is to measure
Hilgenreiner’s epiphyseal angle.
• At maturity the deformity may be quite bizarre.
• With bilateral coxa vara the patient may not be seen until he
or she presents as a young adult with OA.

47. • TREATMENT
• If the epiphyseal angle is more than 40 but less than 60
degrees, the child should be kept under observation and re-
examined at intervals for signs of progression.
• If it is more than 60 degrees, or if shortening is progressive,
the deformity should be corrected by a subtrochanteric or
intertrochanteric valgus osteotomy.

49. CONGENITAL GENU
RECURVATUM

50. • This deformity is often associated with other conditions [A],
such as arthrogryposis, spina bifida, developmental hip
dysplasia, and clubfeet. In many cases, the child was born
breech.
• PATHOLOGY
• The pathology depends upon severity. In dislocated knees,
fibrosis of the quadriceps muscle, absence of the suprapatellar
pouch, and valgus deformity of the knee are often present.

51. • EVALUATION
• Look for other abnormalities. Make a radiograph of the pelvis
to make certain the hips are not dysplastic or dislocated.
• Ultrasound or MRI imaging may be necessary to assess the
knee.
• Grade the severity of the deformity

53. • MANAGEMENT
• Manage by gentle stretching and casting or by using the Pavlik
harness if the knee can be flexed to 60°.
• For knee dislocations, perform a quadriceps lengthening at
about 1–3 months of age. Immobilize in 45° of flexion to
avoid skin problems.
• Consider correction of other deformities, such as hip
dislocations and clubfeet, concurrently.
• in older children or adolescents, bony deformity may require
flexion osteotomy to improve alignment.

54. CTEV

55. • Congenital abnormality of the foot with equinus and varus
position of the rearfoot and adduction and inversion
(supination) of the forefoot.
• Secondary clubfoot : Clubfoot can occur as a secondary
condition, primarily in neuromuscular disorders (for example
in Charcot-Marie- Tooth disease , poliomyelitis or infantile
cerebral palsy ), and occasionally also in muscular disorders.

56. PIRANI CLASSIFICATION

58. CLINICAL FEATURES
HISTORY- present since birth.
EXAMINATION
• Bilateral foot deformity in 60% cases.
• Size of foot is small- In U/L cases.
• Foot is in eqinus , varus, adduction, and cavus.(CAVE)
• Heel is small & high. Calcaneum may be felt with difficulty.
• Deep skin creases on post + med side.
• Bony prominence on outer side.
• Outer side of the foot is convex.
• Tightness of posterior and inferior structures.
• Callosities over lateral aspect of foot..

59. • INVESTIGATIONS
• xray, MRI, ultrasound
• Talocalcaneal angle

60. • Differential diagnosis
• clubfoot posture . In the latter condition the foot is likewise in
an adducted varus position, but it is much more flexible and
fully reducible, the lateral malleolus is not posteriorly
displaced, the skin folds are normal and the fine creasing over
the lateral aspect of the talus is absent, the heel is normal in
size, there is no, or only a minimal, equinus component, and
the calf atrophy is hardly present at all.
• congenital pes adductus . In this the changes in the rearfoot are
absent, but the adduction of the forefoot is already present at
birth in contrast with the common condition of acquired pes
adductus . The adduction may be accompanied by subluxation
in the talonavicular joint.

61. TREATMENT
• The treatment of a severe clubfoot consists of 4 phases,
whereas phase 1 alone applies in a case of clubfoot posture,
while phases 1–3 are sufficient for a normal unproblematic and
effectively treated clubfoot.
1. Corrective treatment,
2. Operation,
3. Retention treatment ,
4. Correction of recurrences and late deformities.

62. • Conservative treatment Consists of gradual manipulative
reduction of deformity and maintenance by retentive
apperatus.
• Applicable in cases seen early, within the first year or two.
• Surgical intervention is reserved for clubfoot that resists
conservative treatment or it is seen at a late date.

64. CONSERVATIVE MANAGEMENT

65. • Cooper and Dietz reviewed Ponseti's cases, with an average of
30 years of follow-up, and found that 78% of the patients had
achieved excellent or good functional and clinical outcomes
compared with 85% in a control group without congenital foot
deformity ( 1995).
• OTHER CORRECTIVE TECHNIQUES :
• French method (Dimeglio et al., 2012)
• Monpellier method (Dimeglio et al., 2012)

67. • no attempt should be made to correct the forefoot in the
direction of dorsal extension. Since the Achilles tendon is
stronger than the metatarsal ligaments and the cartilage of the
talus, this can result in the formation of a rocker-bottom
flatfoot with a high-standing heel, low midfoot and dorsally
extended forefoot. In addition, the risk of talar necrosis is
increased.

68. OPERATIVE MANAGEMENT

69. • Soft tissue release alone may be sufficient in younger children
( <3 yr ).
• Bony operations may be required in older children.
• LATE DEFORMITY : Except for [posterior release, soft tissue
operations are useless. The deformity must be corrected by
ample bone resections, preferably after 10yr of age.

70. PMSTR
ON POSTERIOR SIDE ON MEDIAL SIDE ON PLANTAR SIDE
z-plasty. lengthening of 3 tendons :
•tibialis posterior
•flexor digitorum longus, and
•flexor hallucis longus
plantar fascia release.
release of posterior
capsule s of the ankle
and subtalar joints.
release of 3 ligaments :
•talonavicular ligament
•superficial part of deltoid ligament
•spring ligament
release of flexor
digitorum brevis.
release of posterior
talofibular and
calcaneofibular
ligament.
release of 3 more structure is needed in
severe cases :
•interosseous talocalcaneal ligament
•capsules of naviculocuneiform and
cuneiform-first metatarsal joint.
release of abductor
hallucis from
calcaneum.

71. • LIMITED SOFT TISSUE RELEASE
- For equinus : posterior release.
- For adductus : medial release.
- For cavus : plantar release.
• TENDON TRANSFERS ( 5 year)
- Tibialis anterior is transferred to the outer side of the foot.

72. • DWYER’s OSTEOTOMY AND MODIFIED OSTEOTOMY
ACCORDING TO MITCHELL (min. age is 3 yr) :

73. DILWYN-EVAN’s PROCEDURE
• Used for a neglected or recurrent foot in children between 4-8
years.
• Consists of PMSTR with CC-FUSION.

74. WEDGE TARSECTOMY
• Consists of removing a wedge of bones from the midtarsal
area.
• The wedge is cut with its base on the dorsolateral side.
• Once the wedge is removed the foot can be brought to
plantigrade position.
• Performed for neglected clubfoot between the age of 8-11
years.

75. • TRIPLE AARTHRODESIS :
• Consists of fusion of subtalar, CC, and talonavicular joints
after taking suitable wedge to correct the deformity.
• Performed after the age of 12 years.

77. MAINTENANCE OF CORRECTION
• CTEV splints.
• Denis-Brown splint.
• CTEV shoes
• Steenbeek brace (Agarwal et al.,2016).

80. Desai, L., Oprescu, F., DiMeo, A., & Morcuende, J. A. (2010). Bracing in the treatment of children
with clubfoot: past, present, and future. The Iowa orthopaedic journal, 30, 15.

81. CONGENITALANOMALIES
OF THE UPPER EXTREMITY

82. • Congenital abnormalities affect between 1 and 2% of live
births. Of these, around 10% have upper-limb deformities
(kozin SH, 2004).
• Can occur in isolation or with other systemic disorders like
poland and fanconi anemia.

83. IFSSS CLASSIFICATION

84. FAILURE OF FORMATION OF
THE PARTS

85. TRANSVERSE
• Congenital amputations can occur at any level:
- Amelia : absence of a limb.
- hemimelia : absence of the forearm or hand.
- Acheiria : absence of the hand
- adactyly and aphalangia : absence of the fingers and phalanges
• Treatment – surgery for prosthesis fitting

86. LONGITUDINAL
PHACOMELIA
• Phocomelia is defined as the absence of an intercalary segment.
• Proximal – absence or hypoplasia of the upper arm, with forearm and hand
inserted in the trunk.
• Distal – hand inserted in the arm.
• Phocomelia is very rare and its prevalence increased by 60% with the use
of thalidomide during the first trimester of pregnancy
• Treatment – surgical intervention is required

88. RADIAL CLUB HAND
• congenital absence of the radius is a complex pre-axial
deformity that affects not only the skeleton but also all of the
pre-axial structures of the upper limb.
• results in radial deviation of the wrist and shortening of the
forearm.
• Bilateral – 50 to 70 % cases.
• Incidence – 1: 100000

89. • PRESENTATION
• The forearm is short because the ulna is also shorter: on average, 60% of
the normal size.
• The diaphysis of the ulna may be curved towards the radius.
• The radius may be totally or partially absent.
• The radiocarpal joint does not exist, the ulnar head is subluxated and the
triangular fibrocartilage complex does not exist.
• The trapezium, scaphoid and first metacarpal may be absent or partially
present.

91. Bayne & Klug Classification for Radial Club Hand
Type I Radius apparently normal, but shorter, since the distal
epiphysis takes longer to appear and has lower potential
for growth.
Type II Hypoplastic radius. Abnormalities in the proximal and
distal epiphyses, resulting in a miniature radius.
Type III Absence of the proximal or distal third. Absence of the
distal third is more common. The ulna is hypertrophied
and angled radially.
Type IV Complete absence of the radius. This is the commonest
and severest form.

92. Treatment
• Conservative treatment
• Stretching and splinting.
• Surgical
– Centralization - the carpus is
centered on the ulna
– Radialization - for increasing the
leverage between the carpus and
the ulna and impeding recurrence,
the radial portion of the carpus is
placed on the ulna
Physiotherapy Management
• Maintain proper position of wrist
in overcorrected position.
• Gentle relaxed passive movements
towards overcorrection.
• Strengthening for muscle groups
antagonistic to side of deformity.
• Emphasize functional use of hand
with splint.
• Splint is gradually weaned off if
the correction achieved is
maintained voluntarily.
• Prevent recurrence

94. CLEFT HAND or LOBSTER CLAW HAND
• The cleft deformity is characterized by absence of the central rays
(the second, third and fourth rays), which become differentiated at
times differing from when this occurs for the first and fifth rays.
• Typical form is related to possible fusion of rays.
• Atypical form is thought to be one of the manifestations of the
teratological sequence of brachysyndactyly, occurring through
necrosis of the mesenchymal tissue.
• TREATMENT : One should remember that any procedure that
eliminate the cleft will reduce the function.

96. Typical Atypical
V-shaped U-shaped
Bilateral Unilateral
Family heredity Sporadic
Syndactyly is common Syndactyly is rare
Associated with harelip No association
Absence of finger buds Finger buds are common
Feet affected Feet unaffected

97. ULNAR CLUB HAND
• Ulnar club hand is a set of abnormalities that affects the ulnar margin of the
upper limb but also affects structures on the radial margin.
• 4 to 10 times rarer than radial club hand
• Rare associations with malformations of internal organs or systemic
syndromes.
• Association with other skeletal malformations: congenital short femur,
phocomelia, hemimelia, fibular hemimelia and congenital scoliosis.
• The hand is hypoplastic:
- 90% present absence of fingers
- 30% show syndactyly
- 70% have abnormalities of the thumb, rotated metacarpals and Hypoplastic
tendons and muscles
• Since the radius is always present, there is support for the carpus.

99. Modified Bayne System Classification
1. Normal ulna normal; alterations restricted to the hand.
2. Hypoplastic ulna; proximal and distal epiphyses present.
3. Absence of the distal ulna.
4. Total absence of the ulna.
5. Absence of the ulna with radiohumeral synostosis.
6. Abnormalities of the glenoid and humerus.

100. • TREATMENT
- Exercise
- limb lengthening
- Osteotomy
- Radialization
- Splint
- Wrist centralization

101. FAILURE OF
DIFFERENTIATION OF PARTS

102. CONGENITAL RADIOULNAR SYNOSTOSIS
• Usually bilateral (50%) and at the upper third of the forearm,
although the junction can occur anywhere.
• The marrow cavity of the synostosis may be continue with that of
both bones.
• The upper end of the radius may or may not be perfectly formed,
and elbow dislocation is not unusual.
• The supinator is absent.
• Pronators are imperfectly formed or absent.
• The shaft of the radius crosses over the ulna so that a fixed
pronation of the forearm and tightened, narrow interosseous
membrane result.
• TREATMENT : derotation osteotomy.

104. CONGENITAL HUMERORADIAL SYNOSTOSIS
• Generally associated with ulnar club hand
• In cases of stiff elbow, the functional capacity of the upper
limb will depend on the position of the elbow and the
functional capacity of the hand and shoulder.
• Bilateral impairment occurs most commonly.
• Derotation osteotomy and bone lengthening can be used in
well-selected cases that present large deformities.

105. DISLOCATION OF THE RADIAL HEAD
• May occur in isolation or in association with proximal radioulnar
synostosis and other syndromes, including Cornelia de Lange,
Klinefelter, etc.
• Occurs posterior/posterolateral in two-third cases, while anterior in one
third.
• Extreme movements may be limited, no dysfunction noted.
• Difficult to differentiate chronic traumatic dislocation from congenital
dislocation
• Congenital dislocation is generally bilateral, the radial head is flattened,
associated anomalies are present, the capitellum is hypoplastic and the
ulna and radius may be shortened.
• TREATMENT is rarely necessary during childhood. Resection of the
radial head may be indicated during adolescence or in adulthood,
always after skeletal maturity, in painful cases.

107. SYMPHALANGISM
• This is characterized by stiffness or fusion of the interphalangeal joints.
• More common in ulnar joints
• Failure of IP joint to differentiate during development.
• At adult ages, arthrosis may occur in the distal interphalangeal or
metacarpophalangeal joint due to mechanical overload.
• Associated conditions
– Syndactyly
– Apert Syndrome
– Poland’s Syndrome

108. SYNDACTYLY
• Defined as variable fusion between two adjacent fingers.
• It is one of the most common congenital deformities
• Occurs in 1:2000 live births.
• CLASSIFICATION
• Simple: fusion only through the skin;
• Complex: when there is a bone connection.
• Complete: the entire commissure is involved, as far as the nail bed;
• Incomplete: the nail bed is not involved.
• Complicated: involvement of vascular tissues, tendons or nerves.

110. • It can occur separately or as a manifestation of a syndrome, such as
Streeter, Apert or Poland, in which the severity of the syndactyly is greater.
• All patients with syndactyly have surgical indications and the surgery
should be done before the age of two years, in order to avoid angular
deformities between the fingers.
• The initial treatment consists of reconstruction of the digital commissure,
with adequate skin coverage and reconstruction of the nail bed.

111. CONTRACTURES

112. PTERYGIUM
• The pterygium, or presence of a
band of skin in the cubital fossa,
may occur in isolation or in
association with syndromes.
• The elbow is frequently stiff and
surgical treatment to increase its
range of motion is discouraged
because of the lack of success in the
literature.

113. CONGENITAL TRIGGER FINGER
• Present with digits in a position of flexion.
• Present at birth but not appreciated until months later.
• Anomaly is secondary to either sheath stenosis or tendon noduleor both.
• Period of observation with or without splinting is recommended ifchild is less
than 6 months of age.
• Condition is less likely to resolve in older child so surgery is recommended.
• If left untreated older child may develop fixed flexion deformity and joint
contractures.

114. CONGENITAL TRIGGER THUMB
• Congenital trigger thumb has been considered by some authors to be an
acquired condition, given that it may not be present at birth, although
abnormalities of the A1 pulley have been described.
• It generally presents as a contracture of the interphalangeal joint of the
thumb, in fixed flexion.
• Treatment is initially conservative.
• After one year of age, if conservative treatment fails, opening the A1 pulley
is indicated.

115. HYPOPLASTIC THUMB
• Hypoplasia of the thumb consists of a set of abnormalities that go
from a thumb that is slightly smaller to its complete absence.
• Incidence – 1:1,00,000 live births
• Both male and female are equally affected.
• Bilateral involvement in 60% patients.
• Right hand more common than left
• It may occur in isolation or together with longitudinal deficiencies
of the radius.

116. • Conservative treatment
• The surgical procedures involved in reconstruction of the thumb
include:
– Bone stretching
– Opponensplasty: superficial flexor of the fourth finger or abductor of the
fifth finger
– Zetaplasty of the first commissure
– Reconstruction of the ulnar collateral ligament
– Tendon transfers: extensor proprius of the index finger to the long extensor
of the thumb; superficial flexor of the fourth finger to the long flexor of
the thumb.

117. ABSENCE OF EXTENSORS
• Rare deformity
• Can be presented as:
– Absence of extensors of one finger, generally the proximal interphalangeal
– Absence of extensors from all the fingers
• In these cases, tendon transfers are indicated, after the age of five
years, because of the size of the tendons. So far, surgery is
recommendable, with use of orthoses.

118. THUMB ADDUCTION CONTRACTURE
• This is generally associated with other symptoms.
• Thumbs with adduction contracture are divided as follows:
1. Type I: thumb is generally flexible and condition occurs through absence
or hypoplasia of the extensor tendon
2. Type II: thumb is stiff; there are associations with joint malformations,
the thenar musculature and insufficiency of the first commissure
3. Type III: association with arthrogryposis, without alteration of the
extensor tendon.

119. CAMPTODACTYLY
• This is defined as a painless and progressive non-traumatic contracture of the
proximal interphalangeal joints.
• It affects around 1% of the population and the great majority of the cases are
extremely mild and asymptomatic.
• There are three types of camptodactyly:
 Type I: child or congenital form; this is the classic form of camptodactyly, which
affects one or both the fifth fingers, without any difference between males and
females.
 Type II: adolescent form; more frequent in women and generally evolves to
severe contractures.
 Type III: the most severe form, associated with systemic syndromes.

121. • Treatment:
 The treatment for type I is conservative, with orthoses and manipulation.
 For types II and III the following have been described:
 osteotomy of the proximal phalangeal extensor;
 tenoplasty or reconstruction of the extensor tendon;
 transfer of the superficial flexor of the fingers to be an extensor;
 arthrodesis of the proximal interphalangeal joint.

122. ULNAR DEVIATION OF THE FINGERS
• It is characterized by progressive flexed contracture of the
metacarpophalangeal joint and ulnar deviation of the fingers.
• There is an association with thumb adduction contracture.
• The initial treatment should consist of use of an orthosis until surgical
treatment becomes possible.
• Zetaplasty, skin grafting, capsuloplasty and tendon realignment are used.

123. CLINODACTYLY
• The term clinodactyly refers to radioulnar deformity of the phalanges, with
angular deviation, distally to the metacarpophalangeal joint.
• It may or may not be associated with systemic syndromes.
• more common than camptodactyly
• It typically affects the middle phalange of the fifth finger with deviation of up
to 10°.
• The physiopathology of the deformity is based on a C-shaped abnormality of
the epiphysis of the middle phalange.
• Most cases of clinodactyly do not require treatment, or orthoses because of
their lack of efficacy.
• In cases of severe deformity, partial epiphysiodesis or osteotomy are indicated
to correct the angular deviation.

124. CLINODACTYLY DELTA PHALANX

125. DELTA PHALANGE
• The presence of abnormal phalanges of triangular shape, called delta
phalanges, is associated with severe angular deformities
• When a delta phalange is associated with angular deformity, surgical treatment
is indicated.
• Opening or closing-wedge osteotomy and partial epiphysiodesis are indicated.
• Resection of the delta phalange is indicated in children up to the age of four
years. Above this age, there is a risk of finger instability.

126. KIRNER DEFORMITY
• This is characterized by volar-radial deviation of the distal
interphalangeal joint of the fifth finger.
• Affects between 0.15 and 0.25% of the population
• Twice more common in women.
• It commonly first appears during adolescence.
• It is attributed to non-traumatic alterations during the growth phase.
• It rarely affects hand function, and treatment is only rarely necessary.
• For conservative treatment, orthoses can be put in place when it is
observed at an early age, before the growth spurt of puberty.
• Surgery is more indicated in relation to the appearance of the finger –
partial osteotomy of the distal phalange.

127. DUPLICATION FAILURE

128. POLYDACTYLY OF HAND
• A congential malformation of the hand
• Three forms exist
– preaxial polydactlyly
• thumb duplication
– postaxial polydactlyly
• small finger duplication
– central polydactlyly

129. • PREAXIAL POLYDACTYLY
• 1 per 1,000 to 10,000 live births
• M>F
• caucasian > African Americans
• usually unilateral and sporadic
• associated with several syndrome
• TREATMENT :operative
• goals of treatment
– to construct a thumb that is 80% of the size of the contralateral thumb
– resect 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

130. • techniques:
a) Tendon and ligament reinsertions
b) Osteotomy
c) Joint realignment in cases of two epiphyses
d) Resection of floating thumb

131. • Postaxial Polydactyly (Small Finger Duplication)
• 10X more common in African Americans.
• inherited as autosomal dominan.
• Classification:
- Type A - well formed digit
- Type B - rudimentary skin tag (vestigial digits).
• TREATMENT : reconstruction surgery and resection.

133. • CENTRAL POLYDACTYLY
– commonly associated with syndactyly
• extra digit may lead to angular deformity or impaired motion
• Treatment
– osteotomy and ligament reconstructions
• indications
– perform early to prevent angular growth deformities

134. • MIRROR HAND or ULNAR
DIMYELIA
• characterized by absence of the
radial ray (including thumb),
duplication of the ulna and
duplication of the ulnar halves of the
carpals, metacarpals and phalanges.
• It is extremely rare
• Treatment
 Consists of creating a hand of
acceptable and functional esthetic
appearance.
 Resection of the fingers and
reconstruction of the thumb are the
initial guidelines.

136. OVERGROWTH

137. MACRODACTYLY
• it is an uncommon condition in which
a baby’s toes or fingers are
abnormally large due to the
overgrowth of the underlying bone
and soft tissue.
• Nonhereditary congenital digit
enlargement
• It represents a large number of
distinct phenotypes with deformities
both of bone and of soft tissue.
• Location
– 90% are unilateral
– 70% involves more than one digit
– index involved most frequently

138. • Treatment
– The treatment principles are that an esthetically acceptable hand with
pincer capacity for gripping objects should be provided.
– Several techniques that combine osteotomy, epiphysiodesis, soft-tissue
reduction (especially of fatty tissue), tendon shortening and neurectomy
have been used with the aims of impeding overgrowth and reconstructing
the appearance of the finger.

139. UNDERGROWTH

140. • Brachydactyly – short fingers
• Brachysyndactyly – brachydactyly associated with syndactyly
(union of two or more fingers)
• Brachyphalangism – shortening of the phalanges
• Ectrodactyly – absence of the phalanges
• Brachymetacarpia – shortening of the metacarpals

142. • Treatment
• Cases that involve a phalange or metacarpal rarely need
treatment.
• In many cases, there is no indication for surgical treatment
because of good functioning.
• In cases of poor hand function, the following can be indicated,
depending on each case:
- Transfer of phalange from the non-vascularized foot: used in conjunction
with local flaps as a compound graft.
- Microsurgical transfer of toe: perhaps the best technique for recovering
the pincer capability of the hand when only the thumb is present.

143. CONGENITAL CONSTRICTION
BAND SYNDROME
(STREETER SYNDROME)

144. STREETER SYNDROME
• occurs when loose fibrous bands of ruptured amnion adhere to and entangle the
normal developing structures of the fetus.
• PATHOPHYSIOLOGY
- no firmly established etiology
- most accepted theory is that the disrupted amnion releases fibrous membranous
strands which wrap around the developing limb in a circumferential fashion
• sporadic and not hereditary
• ASSOCIATED CONDITIONS
• orthopaedic
– clubfoot
– syndactyly
• nonorthopaedic
– cleft palate
– cleft lip
– craniofacial defects

145. • Physical exam
– normal anatomy proximal to constriction ring
– bands perpendicular to longitudinal axis of the digit or
limb
• most common presentation
– central digits more commonly affected
– amputations distal to constriction site can be found
– when no amputations present look for
• secondary syndactyly
• bony fusions
– may observe sinus tracts proximally between digits

146. • Treatment
• Initially, Streeter syndrome may require emergency treatment, in cases of
distal vascular distress at the constriction band, even if only a few hours or
days after birth.
• Resection of the fibrous band, below the subcutaneous level, is essential,
followed by zetaplasty on the skin.
• Resection of the constriction bands can be done as a single surgical
procedure, provided that the venous return is preserved and that two
constriction bands are not very close.
• In cases of complete syndactyly, the commissure needs to be reconstructed.

147. MISCELLANEOUS SKELETAL
DEFORMITIES

148. MADELUNG’S DEFORMITY
• Madelung deformity is defined as a growth deficit of the anteromedial portion
of the growth plate of the distal third of the radius.
• In addition, there is shortening and curvature of the radius, widening of the
distal radioulnar joint, dorsal subluxation of the ulna and triangular deformity
of the carpus.
• Manifestation of dyschondrosteosis
• Occurs bilaterally
• Women > men
• Etiology
 uncertain,
 but vascular deficits and anomalous ligaments have been described

150. • In Asymptomatic cases - No treatment is necessary for.
• For patients who complain of pain, orthoses and rehabilitation
are used.
• Indications for Surgery
• Untreatable pain
• Limitations of range of motion that cause difficulties in
activities of daily living

151. ARTHROGRYPOSIS
• Arthrogryposis is a group of heterogeneous syndromes that affect children and
are characterized by congenital joint contractures in two or more joints.
• Sporadic incidence
• Characterized by symmetrical involvement of the joints, limbs of tubular
appearance, absence of flexor skinfolds and normal intelligence.
• The causes are multifactorial and include myopathy, neuropathy, connective
tissue abnormalities, diminished intrauterine space, etc.
• There is absence of intrauterine movement, which in turn causes the joint
contractures and deformities.

152. • Presentation :
– All four limbs are involved – 84%
– Only the lower limbs are involved –
11%
– Only the upper limbs involved – 5%
– Shoulders - internal rotation and
adduction
– Elbows – extended
– Wrist – flexed with ulnar deviation
– Fingers – flexed and rigid
– Thumb – adducted

153. • A distal form of arthrogryposis has been described, in which
only the hands and feet are affected, thus sparing the major
joints.
• Distal arthrogryposis responds well to conservative treatment
consisting of stretching and serial orthoses, started soon after
birth.

154. • The treatment priorities are to promote the capacity to communicate,
perform activities of daily living, have mobility and be able to walk.
• The IFSSH (International Federation of Societies for Surgery of the
Hand) recommends that manipulation, joint stretching and orthoses
should be used soon after birth.
• There are some authors who have recommended surgical
interventions starting at the age of three months.
• Rotational osteotomy of the humerus may be indicated in some
cases.
• The treatment for the wrist can be done using the following:
– Proximal carpectomy
– External fixator.
– V-shaped dorsal osteotomy
– Arthrodesis

155. CONGENITAL ELEVATION
OF THE SCAPULA

156. • Commonest congenital anomaly of the shoulder.
• Consist of permanent elevation of shoulder girdle due to a failure of
descent of scapula from its embryonic position.
• The scapulae normally complete their descent from the neck by the third
month of fetal life; occasionally one or both scapulae remain incompletely
descended.
• Associated abnormalities of the cervical spine are common and sometimes
there is a family history of scapular deformity.
• Scapula is hypoplastic and misshapen.
• Varying degree of restriction of shoulder movement , particularly abduction
and flexion.

158. • MILD -----the scapula is only slightly elevated and is a bit smaller than
normal and its motion is only mildly limited.
• SEVERE ---the scapula is very small and can be so elevated that it almost
touches the occiput. The patient’s head often is deviated toward the affected
side.
• OMOVERTEBRAL BONE In about one third of patients, an extra ossicle,
present; this is a rhomboidal plaque of cartilage and bone lying in a strong
fascial sheath that extends from the superior angle of the scapula to the
spinous process, lamina, or transverse process of one or more lower
cervical vertebrae.

159. PATHOANATOMY
• Dysplasia of scapula ( smaller in vertical diameter and appear broad).
• The supra scapular portion arches forward where it fits over the superior
thoracic cage in its elevated position. Looking at it from the posterior
aspect , it is rotated such that its inferior angle is approximated to the spine.
• Vertebral border of scapula is convex and lateral border is concave.
• Occasionally it reaches the base of the occiput of skull
• The envolved muscle (SIT), and those attatch scapula to cervical spine
(LS,Trap,SA,Rhom) are may imperfectly devlop.

160. CLINICAL FEATURES
• Two similar, and possibly related, conditions are encountered.
• Sprengel’s deformity :
• Deformity is the only symptom and it may be noticed at birth. The shoulder
on the affected side is elevated.
• the scapula looks and feels abnormally high, smaller than usual and
somewhat prominent; occasionally both scapulae are affected.
• The neck appears shorter than usual and there may be kyphosis or scoliosis
of the upper thoracic spine.
• Shoulder movements are painless but abduction and elevation may be
limited by fixation of the scapula.
• X-rays will show the elevated scapula and any associated vertebral
anomalies; sometimes there is also a bony bridge between the scapula and
the cervical spine (the omo-vertebral bar).

161. • Klippel–Feil syndrome :
• This is usually a more widespread disorder.
• There is bilateral failure of scapular descent associated with marked
anomalies of the cervical spine and failure of fusion of the occipital bones.
• Patients look as if they have no neck;.
• there is a low hairline, bilateral neck webbing and gross limitation of neck
movement.
• This condition should not be confused with bilateral shortness of the
sternomastoid muscle in which the head is poked forward and the chin
thrust up.
• the absence of associated congenital lesions is a further distinguishing
feature.

164. CAVANDISH CLASSIFICATION

165. TREATMENT
• Mild cases are best left untreated.
• Surgical treatment aims to decrease deformity and improve shoulder
function.
• In children under 6 years of age, the scapula can be repositioned by
releasing the muscles along the vertebral and superior borders of the
scapula, excising the supraspinous portion of the scapula and the
omovertebral bar, pulling the scapula down, then reattaching the muscles to
hold it firmly in its new position.
• In older children this carries a risk of brachial nerve compression or
traction between the clavicle and first rib; here it is safer merely to excise
the supraspinous portion of the scapula in order to improve the appearance
but without improving movement.
• Before undertaking any operation the cervical spine should be carefully
imaged in order to identify any abnormalities of the odontoid process or
base of skull.

167. CLEIDOCRANIAL DYSOSTOSIS
(marie & sainton’s disease)

168. • This is a heritable disorder (autosomal dominant) characterized by
hypoplasia or aplasia of the clavicles and flat bones (pelvis, scapulae and
skull). Those affected have a typical appearance, with drooping shoulders,
an usually narrow chest and the ability to bring the shoulders together
across the front of the chest.
• affects bones formed by intramembranous ossification
• Head is brachycephalic.
• X-rays show hypoplasia or complete absence of the clavicles, and
sometimes also of the scapulae. Other skeletal defects, which occur in
varying degree, are delayed closure of the fontanelles, brachycephaly,
underdevelopment of the pelvis, coxa vara and scoliosis.
• Treatment is usually unnecessary and, despite the widespread defects,
patients enjoy good function.

171. CONGENITAL
PSEUDARTHROSIS OF
THE CLAVICLE

172. • Congenital failure of fusion of the medial and lateral ossification centers of
the clavicle.
• The typical clinical picture is that of a child with a painless lump in the
mid-shaft of the clavicle. This always occurs on the right side, except in the
presence of dextrocardia.
• X-ray shows the break in the clavicle, which usually heals only after
excision of the ‘nonunion’ and bone grafting.
• Treatment, if required, is by excision of the pseudarthrosis and bone
grafting across the gap.