Congenital

Deformities
Gay G. Crisostomo-San Antonio,
PTRP, MD
Congenital Deformities
Etiology
• Genetic influences
• Intrauterine environmental influences
• Combined genetic and environmental
influences
Definition of Terms
TERMINOLOGY DESCRIPTION
Congenital Anomaly that is apparent at birth
Deformation A normally formed structure that is
pushed out of shape by
mechanical forces
Deformity A body part altered in shape from
normal, outside the normal range
Developmental A deviation that occurs over time;
one that may not be present or
apparent at birth
Disruption A structure undergoing normal
development that stops developing
or is destroyed or removed
Dysplasia A tissue that is abnormal or
wrongly constructed
Malformation A structure that is wrongly built;
failure of embryologic
development or differentiation
resulting in abnormal or missing
Hip joint
• Hip joint – pivotal type of joint

• Growth & Development – begins to develop

at 7th wks AOG
• Neonatal acetabulum is completely
cartilaginous
Hip joint
• Vascular supply
• Intraosseous - medial femoral circumflex artery
• Extraosseous – retinacular vessels
 Developmental Dysplasia of
the Hip
• Hip subluxation is defined as partial
contact between the femoral head and
acetabulum
• Hip dislocation refers to a hip with no
contact between the articulating surfaces
of the hip
Developmental Dysplasia of
the Hip
• Clinical Features
• Neonate
• Barlow test – provocative maneuver to assess the DDH
• Assess the potential for dislocation of a nondisplaced
hip.
• The examiner adducts the flexed hip and gently pushes
the thigh posteriorly in an effort to dislocate the
femoral head
• In a positive test, the hip will be felt to slide out of the
acetabulum.
• As the examiner relaxes the proximal push, the hip
can be felt to slip back into the acetabulum.
Developmental Dysplasia of
the Hip
• Barlow
Developmental Dysplasia of
the Hip
• Ortolani test is the reverse of Barlow test:
• The examiner attempts to reduce a dislocated hip
• The examiner grasps the child's thigh between
the thumb and index finger and, with the 4th and
5th fingers, lifts the greater trochanter while
simultaneously abducting the hip.
• Positive, the femoral head will slip into the socket
with a delicate “clunk” that is palpable but usually
not audible.
Developmental Dysplasia of
the Hip
• Ortolani
Developmental Dysplasia of
the Hip
• Infant
• The hip is no longer reducible
• Limited hip abduction
• apparent shortening of the thigh
• proximal location of the greater trochanter, asymmetry of
the gluteal or thigh folds
• pistoning of the hip
• Limitation of abduction is the most reliable sign of a
dislocated hip.
Developmental Dysplasia of
the Hip
Developmental Dysplasia of
the Hip
• Galleazzi sign – shortening of the thigh
Developmental Dysplasia of
the Hip
• Toddler
• Waddling gait
• Leg length discrepancy
• Positive trendlenburg sign
Developmental Dysplasia of
the Hip
• Radiography
Developmental Dysplasia of
the Hip
• Hilgenreiner's line is drawn through the triradiate
cartilages.

• Perkins line is drawn perpendicular to

Hilgenreiner's line at the lateral edge of the
acetabulum.

• Shenton's line curves along the femoral

metaphysis and connects smoothly to the inner
margin of the pubis.

• Acetabular index – normal in NB 27.5 degrees

Developmental Dysplasia of
the Hip
• NEWBORNS AND INFANTS < 6 MONTHS OF AGE
• Abduction diaper (triple diaper)
• Pavlik harness
Developmental Dysplasia of
the Hip
• CHILDREN 6 MONTHS TO 2 YEARS OF AGE
• Closed Reductions – performed in OR
Developmental Dysplasia of
the Hip
• CHILDREN OLDER THAN 2 YEARS OF AGE
• More challenging
• Open reduction
Developmental Dysplasia of
the Hip
• SEQUELAE AND COMPLICATIONS
• Avascular necrosis
• Redislocation
• residual subluxation
• acetabular dysplasia
• postoperative complications (wound
infections)
Talipes Equinovarus
• Clubfoot - malalignment of the
calcaneotalar-navicular complex.
• CAVE deformity
• Cavus
• Adductus
• Varus
• Equinus
Talipes Equinovarus
Two types
• Positional clubfoot- deformed position in
utero
flexible on PE
• Congenital clubfoot - involves a spectrum
of severity, while clubfoot associated with
neuromuscular diagnoses or syndromes
• Rigid on PE
• Difficult to treat
Talipes Equinovarus
Talipes Equinovarus
Clinical Manifestation
• forefoot cavus and adductus
• hindfoot varus and equinus
• internal tibial torsion
• leg-length discrepancy
Talipes Equinovarus
Treatment
• GOAL – Dorsiflexion, eversion, abduction
(position)
• Starts at birth
• Gentle manipulation of the deformed foot
• Applying plaster cast mold (6 mos)
Talipes Equinovarus
Denis Browne Splint – worn 24/7 or night only
- assist in maintaining the corrected position
after full correction has been accomplished
- shoes have a reversed last (maintain the
abduction)
- patient should be seen up to 6 – 7 y/o
Talipes Equinovarus
Surgery – if no improvement
6 – 8 y/o
• Lengthening of Achilles tendon and posterior
tibial tendon

8 -10 y/o
• Osteotomy of the calcaneus to lessen the
inversion of the heel
Talipes Equinovarus
More than 10 y/o – adult
• Wedge osteotomy (triple arthrodesis)
• Talonavicular
• Talocalcaneal
• calcaneocuboid
Talipes Calcaneovalgus
• Excessive dorsiflexion and eversion - hindfoot
• Forefoot may be abducted
• External tibial torsion

Treatment:
• Mild degrees – no treatment
• Moderate - gentle stretching
• Severe – corrective cast and Denis browne
Metatarsus Varus
• Adduction of the forefoot relative to the hindfoot.
• Forefoot is supinated and adducted
• bilateral in 50% of cases
Metatarsus Varus
• Treatment
• Depend upon the severity of the deformity
• Gentle stretching
• Reverse last-shoes
• Corrective cast
Congenital vertical
talus
• Rocker-bottom foot or a Persian slipper foot
• Plantar surface of the foot is convex,
• Talar head is prominent along the medial border of
the midfoot
• Forefoot is dorsiflexed and abducted
• Hind foot equinus and valgus
• Rigid deformity
Congenital vertical talus
Congenital vertical talus
Treatment
- serial manipulation and casting
- surgery – 6-8 mos of age
- release/lengthening of the
contracted anterior soft tissues in
open reduction of the
talonavicular
joint
Arthrogryposis Multiplex
Congenita
• Congenital anomaly in the newborn involving
multiple curved joints
Arthrogryposis Multiplex
Congenita
• Clinical Features
• Multiple rigid joint deformities are present
• Defective muscles but normal sensation
• There is rigidity of several joints in each case
resulting from both short tight muscles and
capsular contractures
Arthrogryposis Multiplex
Congenita
• Treatment
• Aim – to obtain a well aligned and stable joint for
weight bearing (LE)
• Foot – triple arthrodesis
• Hip dislocation – left untreated
• UE – lengthening of triceps tendon
SPRENGEL DEFORMITY
• Congenital elevation of the scapula
• High scapula
• limited scapulothoracic motion
• Mild cases - rotated, with a palpable or visible
bump
• Moderate cases - scapula is higher on the neck
and connected to the spine
• Sh. Abduction is limited
• Severe cases, the scapula is small and positioned
on the posterior neck
• Webbed neck
SPRENGEL DEFORMITY
Treatment
• Mild – no treatment
• Severe cases - surgical repositioning of the
scapula with rebalancing of parascapular muscles
Cleidocranial Dysostosis
• Partial or complete absence of the clavicle
• Autosomal dominant

Pathology
• Upper half of the chest is narrow and flat
• Muscles in the clavicular region is maldevelop

Treatment
• No treatment
Klippel-Feil Syndrome
• Congenital fusion (failure of segmentation) of one
or more cervical motion segments

• Triad of short neck, low hairline, and restriction of

neck motion
Klippel-Feil Syndrome
Klippel-Feil Syndrome
• Treatment – none
sometimes release of web neck (appearance)
Other deformities
• Syndactyly - failure of separation of adjacent
digits

• Polydactyly - presence of one or more

supernumerary digits or parts of digits