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CONGENITAL

ABNORMALITIES
By. Prof. Dr. Hafas Hanafiah,
SpB, SpOT(K)FICS

CONGENITAL ABNORMALITIES

Congenital abnormalities may be defined as


defects in the developments of body form
on function that are present at the time of
birth.
They may be :
Localized, as in club foot
Generalized, as in Osteogenesis imperfecta.
Etiological factors may be caused by
genetic defects, enviromental in fluences
or combination of the two.

LOCALIZED CONGENITAL
ABNORMALITIES OF THE LOWER LIMB
Congenital overriding of the fifth toe
Dorsalsublux, of the MP joint, is associated
with a shortened extensor tendon and
tightness of the over lying skin.
Treatment by Z plasty of the skin, tenotomy
of the extensor tendon and dorsal
capsulotomy of the joint.

Congenital varus of the small toes


(curly toes)
Is common, particularly in the third toe, the
end of the curved toe tends to lie under its
medial neighbor but almost never causes
discomfort Strapping is ineffectual, and
operative treatment is seldom necessary
because the deformity usually corrects it
self spontaneously.

Metatarsus Primus Varus


A varus or adduction deformity of the first
Mt in relation to the other four Mts.
Medial border of the forefoot is curve
inward, and there is a wide space between
the first and second toes.
Treatment : early by the application of a
series of corrective plaster casts to prevent
the development of adolescent hallux
valgus.

Metatarsus Varus
Deviation of all five metatarsals in relation
to the hindfoot couses the foot to have a
concave innerborder and convex auter
border, especially when in a weightbearing
position.
In most children the deformity is mild
(flexible) Avoidance of sleeping face down
with the feet curled in when the deformity is
rigid or resistant treatment should be
started at least within the first few week of
life by application of a series of plaster casts
for 6 to 12 weeks.

Then a denis browne boot splints is applied


nigthly for a few months.
When intreated older then 2 years of age :
Soft tissue release
The child has reached the age 4 years :
Perform an osteotomy at the base of each
metatarsal

Club foot (Talipes Equinovarus)


Deformity is easy to diagnose but difficult to
correct completely
The deformities including :
Fore foot adduction and supination
Heel varus
Ankle joint equinus
Foot in relation the knee, medial deviation

The degree of deformity : mild, moderate,


severe, assessed by its feel of flexibility. Or
conversely of rigidity (resistance)
Bilateral in half of the afflicted children, boys
twice as often as girl.
The cause of congenital club foot remains of
unsolved puzzles
Calf muscles and tibialis posterior are unduly
short, fibrous capsules of all the deformed
joints are thick and contracted on the
concave side of the deformity.
Severe clubfoot must be differentiated with
either spina bifida or arthrogryposis.

The general principles of treatment :


Plaster cast are applied weekly about 6
weeks
Then be continued to a Denis Browne shoe
splint for 3 months
Out flare boots for daily use until the child is
3 years of age

60% of congenital clubfoot are resistent.


In resistent clubfoot is better to perform soft
tissue correction operation at 4 to 6
months. Soft tissue operations
(capsulotomies, tendon lengthening and
tendon transfer) are effective in the first 5
years of life,
In the child 5 years to 10 year need bony
operation (bony reshapping), more than10
years : arthrodesis are usually necessary.

Talipes calcaneavalgus
At the time of birth, have one or both feet in
dorsiflexed. This result of intra uterine
position, daily passive stretching of the soft
tissues by a parent produces excellent and
permanent correction of the deformity
Only the more resistant deformities require
the application of plaster cast

Congenital plantar flexed (Vertical)


talus

The talus is rigidly fixed in a position of


extreme equinus, a sole of the foot being
convex. The diagnosis is confirmed by a
lateral X-ray of the foot. Non operative
treatment are seldom adequate and soft
tissue releasing operation is indicated.

Tarsal coagulation

Any two of the tarsal bones may be joined


together by a bridge or bar (Coalition). As a
result, movement in the involved tarsal
joints is restricted.

LOCALIZED CONGENITAL ABNORMALITIES OF THE UPPER LIMB

Trigger thumb

A constantly flexed I.P joint of the thumb in children


Usually caused by a stenosis of fibrous sheath of the
flexor pollicis longus tendon.
And a secondary nodular enlargement in the tendon at
the proximal edge of the contriction
Always prevents active extention of IP joint and
prevents passive extention (trigger phenomenon),
snapping flexion is seldom seen in the congenital type.
Under the proximal skin crease, the enlargement in the
tendon is readily felt as a nodule that moves with the
tendon during passive movement of IP joint
Treatment : Surgical

Webbing of fingers
(syndactyly)
The most common congenital abnormality
of the hand
When two adjacent and otherwise normal
fingers are joined by a skin web proximally,
or throughout their length, a recontruction
operation may be expected
Incomplete webbing may be corrected
during infancy, but in the complete web the
recontruction is about 4 years old.

Hypoplasia of Radius (Clubhand)


Relatively uncommon but serious,
abnormality.
Consists of varying degrees of hypoplasia,
or even aplasia of the radial ray. Including
radius, scaphoid, trapezium, first
metacarpal, thumb and associated muscles,
nerves, and blood vessels.

The principles of treatment : early


correction, maintenance during growth,
improvement of hand function.
Passive stretching of the deformity is of
limited and temporary value.
Early soft tissue operation consisting of Z
plasty of the skin, division of the fibrous
band, and maintenance of correction in cast
(for several month) followed by removable
splints.
Permanent correction : implantation of the
distal end of ulna into a slot fashioned in the
carpus (bony operation).

Muscular Torticolis (Way Neck)


The deformity is minimal at birth, within
first few weeks of life, a swelling develops in
one sternocleido mastoid muscle, this
swelling, called a sternocleido mastoid
tumor, gradually disappears but leaves a
contracture of in volved muscle.
As a result, the head becomes tilted, or
laterally flexed, toward the affected side
and rotated toward the opposite side.

The contracture of the muscle prevents its


normal growth in length and, therefore, as the
cervical spine grows, the muscle fail to keep
pace and becomes relatively shorter. Shortness
of muscle on one side not only causes an
increase in the tilting and rotation of the head
but also results in progressive facial asymetry
during the growing years.
x-ray is helpful in differentiating congenital
muscular torticolis from the uncorrectable of
torticolis seen in cervical synostosis (Klippel Feil
Syndrome)
Treatment : Daily stretching by an experienced
physiotherapist

Klippel Feil Syndrome

Failure of vertebral segmentation in cervical


spine results in congenital fusion (synostosis)
between varying numbers of cervical vertebral.
Clinically the childs neck is unduly short
relatively stiff, and posterior hairline is low and
transverse
The head is usually straight, occasionally tilted
to one side, resembling muscular toticolis.
Surgical treatment is limited to improving the
appearance

DEVELOPMENTAL DYSPLASIA
OF THE HIP
Developmental Dysplasia of the Hip (DDH)
dahulu lebih dikenal sebagai Dislocation of
the Hip (CDH) atau cerai panggul bawaan.
Perjalanan penyakit, diagnosa dan
penatalaksanaan DDH bervariasi,
tergantung pada usia pasien.
Developmental dysplasia of the hip adalah
suatu kondisi dimana struktur dari panggul
tidak berkembang secara sempurna. Hal ini
dapat disebabkan oleh

1. Lengkung asetabulum yang tidak normal


2. Elastisitas yang berlebihan dari kapsul
sendi panggul sehingga kaput femur dapat
meluncur ke sisi atas dan lateral dari
asetabulum
3. Pemutaran abnormal dari bagian atas
tulang femur yang dapat menyebabkan
gangguan hubungan antara asetabulum
dan kaput femur.

Dengan terjadinya kelainan-kelainan seperti


yang disebutkan di atas maka dapat terjadi
patologi di bawah ini :
1. Kaput femur tidak sepenuhnya dilindungi
oleh socket asetabulum
2. Kaput femur sedikit berpindah ke sisi
lateral terhadap socket asetabulum
3. Kaput femur tergelincir keluar dari socket
asetabulum

ETIOLOGI

Satu dari 1000 kelahiran hidup ditemukan


dengan sendi panggul yang terdislokasi.
Sebagian besar para ahli setuju bahwa
terjadinya DDH ditentukan oleh factor-faktor
genetic yang dimiliki si bayi. Factor intra
uterin dan ekstra uterin juga memiliki
peranan dalam menyebabkan terjadinya
DDH.

Untuk kepentingan deteksi dini,


kemungkinan terjadinya DDH harus selalu
dipikirkan apabila terjadinya DDH harus
selalu dipikirkan apabila pada bayi
ditemukan :
Letak sungsang
Kelamin wanita
Adanya riwayat keluarga dengan menderita
DDH
Tortikolis
Metatarsus adduktus
Gangguan musculoskeletal

PATOLOGI

Terjadinya kontraktur pada jaringan lunak


dan perubahan pertumbuhan pada kaput
femur dan mangkuk asetabulum. Perubahan
jaringan lunak terjadi pada neolimbus,
labrum dan ligamentus teres. Perubahan
pertumbuhan tulang dapat berupa
malorientasi pada lempeng pertumbuhan
epiisis, gangguan pembentukan tulang baru
dari periosteum, gangguan ossifikasi
asetabulum, perubahan pada kandungan
hiskomia tulang rawan panggul.

PEMERIKSAAN FISIK

Pemeriksaan fisik dilakukan pada ruangan


yang tenang dan hangat, bayi diperiksa
tanpa memakai baju atau popok. Dimulai
dengan observasi untuk mencari adanya
asimetri pada lipatan kulit di inguinal atau
gluteal mencari tanda dari galleazi. Apabila
terdapat keterbatasan dalam kisaran sendi
panggul harus selalu dipikirkan
kemungkinan DDH.

Tes Ortolani dan Barlow dilakukan untuk


mengevaluasi stabilitas sendi panggul. Pada
test Ortolani bayi berbaring telentang pada
alas yang keras. Untuk memeriksa panggul
kiri bayi, tangan kanan pemeriksa
menggenggam tungkai atas kiri bayi,
dengan jari tengah atau jari manis
pemeriksa pada trochanter mayor,
sedangkan ibu jari pemeriksa pada
trochanter minor. Tangan kiri pemeriksa
digunakan untuk memfiksasi pelvis bayi
dengan panggul kanan bayi dalam abduksi.

Tangan kanan pemeriksa mulai melakukan abduksi


panggul bayi sekaligus melakukan tekanan pada
trochanter mayor ke atas sehingga panggul bayi
terangkat. Sensasi klik menandakan panggul
yang terdislokasi tereposisi ke dalam asetabulum.
Pada tes Barlow, bayi diletakan dalam posisi yang
sama. Ibu jari pemeriksa berada pada bagian distal
yang sama. Ibu jari pemeriksa berada pada bagian
distal sisi medial tungkai atas dan digunakan untuk
menekan tungkai atas ke bawah dan ke lateral.
Apabila kaput femur keluar dari mangkuk
asetabulum, dikatakan panggul dislocatable.
Apabila kaput femur bergeser tetapi tidak keluar
dari mangkuk asetabulum dikatakan panggul
subluxatable

Pada anak berusia 2 tahun akan ditemukan


cara berjalan yang pincang
(trendelenburg)bila satu sisi panggul
menderita DDH, atau bahkan berjalan
seperti bebek (weddling gait) bila kedua sisi
panggul terkena. Juga akan ditemukan
lipatan kulit sekitar panggul yang multiple,
perineumnya melebar dan trochanter
terlihat menonjol.

PEMERIKSAAN PENCITRAAN

Foto Polos
Garis Hilgenreiner adalah garis yang ditarik
horizontal melewati kedua kartilago
triradiata. Garis perkins adalah garis yang
ditarik tegak lurus terhadap garis
Hilgenreiner pada sisi lateral asetabulum.
Pergeseran kaput femur atau eksternal
rotasi berlebihan pada panggul akan
mengakibatkan terputusnya garis shenton.

PENATALAKSANAAN DDH

Pevlik Harness ditemukan pada tahun 1958 oleh


Arnold Pavlik (Chekoslovakia). Indikasi pemakaian alat
ini adalah DDH yang masih dapat direduksi pada anak
yang masih belum belajar berjalan. Pada usia 5-6
minggu dilakukan pemeriksaan klinis dan
ultrasonografi. Apabila pemeriksaan pada usia 5-6
bulan hasilnya normal, maka observasi dilanjutkan
dan pada usia 6 bulan dilakukan pemeriksaan
radiologis. Pada bayi dengan panggul yang tidak stabil
dan Tes Barlow (+) maka dilakukan pemasangan
Pavlik Harness, pemakaian Pavlik Harness dihentikan
setelah 2-3 bulan. Pasien di follow up sampai remaja.

PROTOKOL REDUKSI DDH

Aplikasi pavlik Harness


Ultrasanografi untuk merekam masuknya panggul ke asetabulum

Follow up klinis dan ultrasonografi tiap minggu

Evaluasi klinis dan ultrasonografi dengan cermat pada minggu ke-3

Tereduksi
teruskan harness
sampai USG dan
Radiologis normal

Meragukan
Tidak stabil namun
dapat tereduksi fixed
abduction brace

Tidak tereduksi
Lakukan traksi
kemudian adductor
tenotomy konfirmasi
dengan arthrogram
kemudian gips

Pemeriksaan DDH
1. Ruang tenang dan hangat
2. Bayi tanpa pakai baju (popok)
3. Observasi asimetri lipatan kulit di
inguinal atau gluteal
4. Cari tanda galeazi

5. Bila ada keterbatasan kisaran sendi


panggul
pikirkan akan DDH
6. Test Ortholani dan Barlow
Evaluasi stabilitas sendi panggul

Anak 2 tahun : Jalan pincang


(trendelenburg)
Bila 2 sisi panggul : waddling gait.

TERIMA KASIH