Palatoschisis PP

PRESENTASI KASUS
PALATOSKISIS
Presentator: dr. Priyanto
Moderator: dr. Hesty Setyarini
PENDAHULUAN
Palatoskisis  cacat sejak lahir yang cukup sering

terjadi  berdiri sendiri maupun bersamaan dengan
kelainan bawaan lainnya
Di Inggris prevalensi labioskisis dan palatoskisis

berkisar 1.6 per 1,000 kelahiran hidup:
• 40% adalah palatoskisis
• 60% merupakan labioskisis dan labiopalatoskisis.
Adapted from: Boorman, J. Cleft Lip and Palate in: Pediatric ENT. 2007
PENDAHULUAN
Di Amerika Serikat:
• 45% labiognatopalatoskisis
• 25% labioskisis atau bersamaan antara gnatolabioskisis
• 30% palatoskisis.
Jenis kelamin: Perempuan : Pria  2:1
Sebaran ras: Tidak terlalu tergantung pada etnik, tetapi
kecenderungan ras Asia >>
ras kulit hitam <<
Di Indonesia kita dapat menemukan cukup banyak anak-anak

dengan Sumbing, namun pendataan untuk itu masih belum
tersedia.
PENDAHULUAN
Masalah Kompleks
Menyusui Bicara Gangguan Telinga
Pertumbuhan & Perkembangan Anak
Intervensi Bedah
Adapted from: Wasylik, K and Sidman, J. Pediatric Otolaryngology for The Clinician. 2009
TINJAUAN PUSTAKA
EMBRIOLOGI
• Fase I : umur 4-5 minggu

– Perkembangan bibir atas, hidung dan palatum
primer atau premaxilla (bagian anterior palatum
durum mulai dari anterior foramen insisivum)
• Fase II : umur 8-9 minggu
– Perkembangan palatum sekunder ( palatum durum,
palatum molle hingga sisi posterior dari foramen
incisivum)
Adapted from: Bailey BJ, Johnson JT. Head & Neck Surgery-Otorhinolaryngology, 2006
EMBRIOLOGI
4th week GA Proc. Maksilaris

Proc. Frontonasalis
Proc. Mandibularis
Stomatodeum
Adapted from: Egan, T and Antoine, G. Cleft Lip and Palate in: Facial Plastic,
Recontructive, and Trauma Surgery.
EMBRIOLOGI
Proc. Frontonasalis 5th week GA (early)

Proc. Maksilaris
menebal ke arah
anteromedial
Nasal Placode
Stomatodeum Proc. Mandibularis
EMBRIOLOGI
Proc. Nasalis Medialis
Proc. Frontonasalis
Proc. Maksilaris
menebal ke arah
anteromedial
Proc. Nasalis Lateralis
Stomatodeum Proc. Mandibularis
5th week GA (late)

EMBRIOLOGI
Proc. Frontonasalis
Proc. Maksilaris
Proc. Mandibularis
6th week GA
EMBRIOLOGI
Proc. Frontonasalis
Proc. Maksilaris
Proc. Mandibularis
7th week GA
EMBRIOLOGI
• Usia kehamilan 6-7 minggu : proc nasal media

kanan-kiri masing2 bersatu dengan sisi dari proc
maxillaris  segmen intermaxillaris yang
akhirnya akan menjadi
– Philtrum
– Premaxilla
– Palatum primer
– Nasal tip
EMBRIOLOGI
• Proc maxillaris lateralis membentuk :

– Bibir lateral
– Maxilla lateral
– Palatum sekunder
– Ala nasi lateral
• Proc maxillaris lateralis membentuk proc palatina

lateralis kanan kiri  tumbuh horisontal 
bersatu kanan kiri dari anterior ke posterior 
palatum sekunder
EMBRIOLOGI
Adapted from:
Aronson, AE, and Bless, DM. Embryology of Palate in: Clinical Voice Disorder.
EMBRIOLOGI
ANATOMI PALATUM
Batas dinamik antara rongga mulut dengan rongga hidung
Palatum durum pada bagian anterior dan palatum mole
pada bagian posterior
Palatum durum:
•Dibentuk oleh prosesus palatina os maksilaris dan pars
horizontal os palatina.
•Krista alveolaris os maksilaris menjadi batas anterior dan
lateral dari palatum durum
•Sisi posterior palatum durum dan palatum mole saling
berhubungan.
ANATOMI PALATUM
Palatum mole terdiri atas lima pasang otot dan sebuah

aponeurosis sentral:
•Sepasang muskulus uvula
•Sepasang muskulus tensor veli palatini
•Sepasang muskulus levator veli palatini
•Sepasang muskulus palatoglosus
•Sepasang muskulus palatofaringeus
ANATOMI PALATUM
ANATOMI PALATUM
Adapted from:
Tewfik, TL. Congenital Malformation, Mouth and Pharynx in: www.emedicie.com, 2010
ANATOMI PALATUM
Mukosa bagian anterior dari palatum mole melekat pada
palatum durum dan bagian lateral pada dinding farings.
Bagian posterior  tepi bebas
Sistem otot dari palatum mole  memisahkan antara

nasofarings dengan orofarings.
Bernapas, sisi posterior palatum mole hampir vertikal

 hubungan antara rongga mulut dan rongga hidung
Berbicara atau menelan, sistem otot palatum mole  lebih

horizontal dan menyentuh dinding belakang farings.
ANATOMI PALATUM
VASKULARISASI & INERVASI
Foramen palatina mayor  arteri dan nervus palatina

mayor  memperdarahi dan mempersyarafi palatum
durum.
Foramen palatina minor  arteri dan nervus palatina

minor  memperdarahi dan mempersyarafi palatum
mole.
ANATOMI PALATUM
PALATOSKISIS
DEFINISI
Tidak terbentuknya secara sempurna palatum mole dan

atau durum pada masa prenatal, sehingga membentuk
suatu celah atau yang berarti celah pada langit–langit
mulut
Adaped from: Sadler TE. Embriologi Kedokteran Langman. 2000

Adapted from:
Aronson, AE, and Bless, DM. Embryology of Palate in: Clinical Voice Disorder.
PALATOSKISIS
PALATOSKISIS
ETIOLOGI & PATOGENESIS
• Sindromik : Ditemukan juga kelainan lain
• Non-sindromik :
Tidak disertai kelainan lain, tidak ada malformasi
sistem organ, tidak ada riw. paparan substansi
teratogenik dan lingkungan, fungsi kognitif
normal, dan pertumbuhan fisik normal
Sindromatik
• Transmisi gen tunggal  AD,AR,X-linked

• Aberasi kromosomal  trisomi, delesi, adisi, atau
translokasi
• Efek teratogenik  etanol, talidomid, phenitoin
• Faktor Lingkungan  sindrom band amniotik,
DM maternal, def. folat, dan paparan asap rokok
Non-Sindromatik
Terjadinya palatoskisis nonsindromatik diperkirakan

akibat berbagai faktor yang hingga saat ini terus dalam
proses penelitian lebih lanjut
• Transmisi gen tunggal
• Aberasi kromosomal
• Efek teratogenik Berbagai faktor Lain
• Faktor Lingkungan (Non-sindromatik)
Fase Embriologik Pembentukan Palatum
Palatoskisis
DIAGNOSIS
Prenatal Diagnosis:
Ultrasonography (USG) telah cukup membantu dalam
menduga terjadinya palatoskisis walaupun kurang
sensitif dibandingkan dalam mendiagnosa labioskisis,
namun dengan hadirnya USG tiga dimensi, perkiraan
terjadinya cacat lahir termasuk palatoskisis lebih
memungkinkan.
Manifestasi Klinis
BAYI  Kesulitan Menyusui  Gangguan tumbuh

kembang
Anak-anak  Kesulitan makan-minum  Gangguan

tumbuh kembang
 Gangguan bersuara  Sengau
 Keluhan telinga  Otitis media efusi
Pemeriksaan fisik: Celah pada langit-langit mulut
PENATALAKSANAAN
Penatalaksanaan Awal
Kesulitan Menyusui  Nipple modifikasi
Posisi waktu menyusui
Penggunaan obturator
Abnormalitas rongga mulut  selama minum byk
udara yang tertelan  regurgutasi >>  Perlu:
pasca minum, bayi disendawakan
Pemberian susu melalui pipa oro/nasogatrik  kondisis
tertentu seperti bayi prematur ataupun ada penyakit dan
kelainan penyerta yang lainnya
Adapted from: httpwww.cleftline.orgpublicationsfeeding_excerpt
Adapted from: httpwww.ehow.comhow_4701492_bottle-feed-child-cleft-palate.html
Adapted from: Liston, B. in: httpwww.chw.edu.auprofservicescleftbook07.htm
PALATAL OBTURATOR
PALATAL OBTURATOR
Terapi Operatif
Tujuan Pembedahan:
Memperbaiki struktur anatomis palatum yang akan
mendukung fungsi normal rongga mulut.
 Memisahkan rongga mulut dengan rongga hidung

 Sehingga tidak terjadi kesulitan dalam menerima
asupan kalori
Tidak terjadi regurgitasi
Perbaikan fungsi tuba eustakhius
Normalisasi proses bersuara.
Adapted from: Dyleski, RA. Surgical Altas of Pediatric Otolaryngology,

Terapi Operatif
Usia yang tepat untuk perbaikkan  perdebatan
Pertimbangan:
• Pertumbuhan regio maksilofasial yang optimum dapat
tercapai bila palatoplasti ditunda hingga usia 18 bulan
• Produksi bersuara yang optimum bila palatoplasti
dilakukan pada usia 9-12 bulan
• Pertumbuhan bayi/anak haruslah baik (berat badan
cukup ideal untuk dilakukan perbaikkan)

Terapi Operatif
Rules of 10s:
• Usia anak adalah 10 bulan
• Berat badan minimal 10 kg
• Kadar hemoglobin darah minimal 10 mg/dl
• Anak dalam keadaan sehat

Terapi Operatif
Teknik operasi:
• Teknik Wardill-Kilner-Peet (V-Y advancement)
• Teknik von Langenbeck
• Teknik Bardach two-flap
• Teknik Furlow (double reversing Z-plasty)
• Modifikasi dari teknik-teknik tersebut
KOMPLIKASI
Terganggunya pertumbuhan dan perkembangan bayi

dikarenakan gangguan dalam menerima asupan kalori.
Komplikasi lainnya yang cukup lazim adalah otitis
media efusi yang dapat berlanjut menjadi otitis media
supuratif
Adapted from:
Bower, CM, et al. Cleft Lip and Palate in: Complications in Pediatric Otolaryngology, 2005
LAPORAN KASUS
IDENTITAS
• Nama : Sdr. AAW

• Jenis Kelamin : Perempuan
• Umur : 9 tahun
• Alamat : Sleman-Yogyakarta
• Pekerjaan : Pelajar
• No RM : 1.49.64.21
• Tanggal Periksa : Januari 2010
ANAMNESIS
Keluhan utama: Terdapat celah pada langit-langit mulut

Riwayat Penyakit Sekarang (Alloanamnesa):
Sejak lahir terdapat celah pada langit-langit mulut pasien,
celah tersebut berkembang sesuai dengan pertambahan
usia bayi. Selama sejak bayi, pasien mengalami kesulitan
dalam menyusui atau makan dan minum ketika pasien
mulai bertumbuh. Tiap kali makan atau minum, pasien
sering rewel dan mengeluh adanya makanan dan
minuman yang masuk ke rongga hidung sehingga pasien
terkadang malas untuk makan dan minum.
Riwayat Penyakit Sekarang:
Namun kemudian keluhan berkurang karena pasien

menggunakan obturator yang menutupi celah pada langit-
langit mulutnya. Walaupun saat ini pasien telah
bertumbuh dan bersekolah seperti halnya anak-anak lain,
namun pasien berbicara sengau yang dirasakan
menggangu dalam proses berkomunikasi. Sejak bayi,
pasien bertumbuh layaknya anak-anak biasa, orang tua
menyangkal adanya kelainan lain pada pasien termasuk
dalam perkembangan di sekolah dimana selama ini pasien
dapat mengikuti pelajaran dengan baik.
Riwayat Penyakit Sekarang:
Pasien juga pernah menjalani operasi penutupan celah

langit-langit, namun kemudian terbuka kembali
dikarenakan pasien memaksakan minum dan makan
melalui mulut pada saat belum diperbolehkan (seharusnya
melalui selang makanan). Saat ini pasien tidak
mengeluhkan adanya gangguan pada kedua telinga, tidak
ada keluhan batuk pilek, tidak ada keluhan sakit menelan.
RIWAYAT PENYAKIT DAHULU
► Riwayat alergi disangkal
► Riwayat kencing manis disangkal
► Riwayat kelainan jantung disangkal

Riwayat Ibu Selama Kehamilan
• Riwayat menderita sakit selama hamil disangkal
• Riwayat menngkonsumsi obat/jamu selama kehamilan

disangkal
RIWAYAT PENYAKIT KELUARGA
•Riwayat menderita kelainan bawaan yang sama disangkal
•Riwayat menderita cacat saat lahir disangkal
•Riwayat kencing manis disangkal

RESUME ANAMNESIS
► Celah pada langit-langit mulut
► Suara sengau
► Riwayat operasi penutupan celah

PEMERIKSAAN FISIK
Keadaan Umum:
Tampak sakit sedang, compos mentis, gizi cukup
Tekanan darah: 130/80; Nadi:80x/menit; Suhu: 37,2ºC;
Frekuensi Pernapasan: 20x/menit
Status Lokalis (PX. THT):

Lihat Whiteboard
PEMERIKSAAN FISIK
Celah Palatal
PEMERIKSAAN FISIK
Celah Palatal
OBTURATOR YANG DIGUNAKAN PASIEN SELAMA
MENUNDA OPERASI PENUTUPAN CELAH PADA
LANGIT-LANGIT MULUT
PEMERIKSAAN PENUNJANG
DIAGNOSIS
Palatoskisis
PENATALAKSANAAN
Palatoplasti
POST PALATOPLASTI
FOLLOW UP
Tanggal 26 Januari 2011:

Pasien menjalankan operasi palatoplasti, pemasangan
nasogastric tube sebagai jalur asupan kalori bagi pasien
selama ± 7 hari, dan pemasangan obturator bekerja
sama dengan bagian ortodensia. Pasca operasi pasien
mendapatkan terapi antibiotika amoksisilin sirup
3x250mg, antinyeri parasetamol sirup 3xcth II (240mg).
FOLLOW UP
S: Nyeri pada rongga mulut (+), Terasa berdarah (-),

demam (-)
O: Perdarahan (-)
A: Palatoskisis post palatoplasti hari ke-1
P: Amoksisilin sirup 3x250mg dan parasetamol sirup
3xcth II (240mg) melalui NGT
FOLLOW UP
S: Nyeri berkurang, Terasa berdarah (-), demam (-)

O: Perdarahan (-)
FOLLOW UP
S: Nyeri (-), Terasa berdarah (-), demam (-)

O: Perdarahan (-)
FOLLOW UP
S: Nyeri (-), Terasa berdarah (-), demam (-)

O: Perdarahan (-)
FOLLOW UP
NGT dipertahankan selama 7 hari untuk asupan

makanan, minuman dan obat oral. Kemudian NGT
akan dilepaskan dan pasien akan diperbolehkan pulang.
Pasien akan kontrol kembali ke poliklinik dalam 1-2
minggu kemudian untuk evaluasi obturator.
MASALAH
Pragnosis
RENCANA
Pasien dianjurkan tidak memanipulasi obturator yang

terpasang dan kontrol ke poliklinik setelah 2 minggu
untuk melepaskan obturatornya. Ini bertujuan agar
celah yang telah diperbaiki tidak kembali terbuka.
DISKUSI
Wasylik, K and Sidman, J (2009)
Cacat sejak lahir yang cukup sering
berdiri sendiri maupun terjadi bersamaan dengan

kelainan bawaan lainnya
Pada pasien, tidak ditemukan adanya kelainan bawaan

lainnya, pasien bertumbuh serta berkembang dengan baik
seperti halnya anak-anak yang seumuran dengannya.
DISKUSI
Boorman (2007) Penegakkan Diagnosis
Anamnesis dan Pemeriksaan fisik
Gangguan menyusui Pemeriksaan fisik :

Gangguan pernapasan Akan jelas tampak
Gangguan pertumbuhan adanya celah pada
Gangguan pada telinga langit-langit rongga
Gangguan proses berbicara mulut
 Ditemukan pada pasien dalam laporan kasus ini

DISKUSI
Egan, T : Plastic, Recontructive, and Trauma Surgery
Penatalaksanaan awal
palatoskisis setelah bayi
lahir sangat penting: teknik Intervensi Bedah
pemberian ASI yang baik
dan penggunaan obturator
Pada pasien: pertumbuhan dan perkembanganya baik

walaupun telah menunda tindakkan operatif hingga usia 9
tahun. Pertumbuhan yang baik karena orang tua sangat
memperhatikan pemberian asupan kalori dan pasien
mempergunakan alat bantu obturator
DISKUSI
Prognosis menjadi permasalahan dalam kasus ini karena
pasien walaupun telah menjalankan operasi palatoplasti
dengan baik, namun bila tidak mematuhi beberapa hal
pasca operasi, maka kemungkian terbukanya kembali
celah yang telah diperbaiki sangat besar
 Pernah dialami pasien pada operasi pertama

KESIMPULAN
Dilaporkan pasien perempuan, berusia 9 tahun dengan
diagnosis palatoskisis. Terhadap pasien ini telah dilakukan
palatoplasti dan pemasangan obturator dengan berhasil.
Kemudian pasien dirawat selama 7 hari untuk
memastikan asupan kalori hanya melalui nasogastric tube
secara optimal (tidak melalui mulut selama dirawat)
sehingga celah benar-benar tertutup dan tidak terbuka
kembali seperti sebelumnya. Setelah 2 hingga 3 minggu
pasien akan kontrol ke poliklinik untuk membuka
obturator dan diharapkan celah tertutup sempurna.
TERIMA KASIH
MOHON ASUPAN…
KLASIFIKASI:
Group I : CL kanan/kiri
unilateral atau bilateral
Group II : CP
Group III : CL + P
Group IV : cleft alveolar
Adapted from: Bailey BJ,

Johnson JT. Head & Neck
Surgery-Otorhinolaryngology,
2006
Klasifikasi karnahan dan stark (Scott
brown)
Group a : CP primer Group b : CP primer

inkomplet unilateral unilateral komplet
Group d : CP
Group c : CP primer
sekunder midline
bilateral komplet
inkomplet
Klasifikasi karnahan
dan stark
The Syndromal Child
Inheritance of traits and disorders may be monogenic or
multigenic or the result of the transmission of an abnormal
chromosome (e.g., a deletion or a duplication). The
expression of specific genes is influenced by other genes or
environmental conditions. Besides the classical mendelian
patterns of inheritance, several nonclassical patterns of
inheritance have been discovered and studied in recent
years.
Single genes are usually inherited according to one of the
following mendelian patterns: autosomal dominant,
autosomal recessive, X-linked dominant, and X-linked
recessive
The Syndromal Child
The following are the characteristics of autosomal dominant
inheritance:
• At least one of the parents of an affected person is also
affected, except when the penetrance is reduced or the trait
arises by a new mutation or when there is germline
mosaicism. The trait appears in every generation. There is no
skipping except when the penetrance is reduced.
• An affected person heterozygous for the trait has an equal
chance of transmitting the mutant or the normal allele to each
child.
• Males and females can have and transmit the trait equally
The Syndromal Child
The following are the characteristics of autosomal
recessive inheritance:
• The parents are heterozygous and phenotypically
normal; the trait appears only in the children who are
homozygous for the mutant gene.
• Statistically, one-fourth of the children of heterozygous
parents are affected and thus there is a chance of 25% at
each pregnancy.
• Males and females have equal chance of being affected.
The Syndromal Child
X-linked recessive inheritance occurs when the mutant gene is on the
X chromosome. It has the following characteristics:
•The trait is much more common in males than in females. Females
have two X chromosomes, and males have only one. All males
carrying the X-linked gene express the trait. Females are affected
when they are homozygous and in certain rare heterozygous cases,
as an effect of the Lyon hypothesis, when a high percentage of cells
have random inactivation of the X chromosome carrying the
normal allele.
• An affected man passes his X-linked gene to all of his daughters
who thus become carriers but are not affected. He does not
transmit it to any of his sons.
• A carrier woman passes her X-linked gene to half of her sons who
manifest the trait and to half of her daughters who become carriers.
The Syndromal Child
X-linked dominant inheritance has the following
characteristics:
• Affected men transmit the trait to all their daughters who
then display the clinical manifestations of that particular
condition. They transmit the gene to none of their sons.
• Heterozygous women are affected. They transmit the trait to
half of their sons and half of their daughters.
Y-linked genes occur only in males. They are transmitted to

all the sons and none of the daughters. There are very few
genes known to be definitely on the Y chromosome
Apert Syndrome
Acrocephalosyndactyly Type I
The major diagnostic criteria are the craniosynostosis and
syndactyly of the hands and feet. The skull is acrocephalic with
a shortened anteroposterior (AP) diameter and a flat occiput.
The craniosynostosis involves the coronal suture. The forehead
is prominent. The nasal bridge is depressed, and the midface
usually is hypoplastic. The palate is narrow and is described as
byzantine-arch shaped. Cleft palate may also occur (30%).
Anomalies of the ears include otitis media, conductive hearing
loss, fixation of the stapedial foot plate, and wide cochlear
aqueduct. Temporal bone studies revealed absence of the
internal auditory canals in one patient and enlarged subarcuate
fossa in another report. Mutations have been found in FGFR2.
Stickler
AR syndromic
Ocular, Pierre Robin sequence, sensorineural hearing loss
COL2A1 (collagen 2A1)

COL11A2 (collagen11A2)
COL11A1 (collagen 11A1)
Robin Sequence
Robin sequence consists of a small mandible, glossoptosis,
a cleft palate and respiratory difficulties. It is thought that
the small mandible maintains the tongue in a high position
in the mouth and that this prevents the palatal shelves
from fusing normally. The cleft is typically described as
being wide and U-shaped in comparison to other cleft
palates, but this is by no means always the case.
The effect of the tongue malposition is to impair the

airway and increase the work of breathing
Robin Sequence
The modern management of Robin sequence uses a
nasopharyngeal airway that extends to the level of the
base of the tongue and holds it forward. This provides for
a satisfactory airway and will, in almost all cases, allow
for normal oral feeding and weight gain. It is best if this
treatment is instituted early (within the first week or two
of life) as the child will progress more quickly and spend
less time overall in hospital
Robin Sequence
Treacher Collins Syndrome
Diagnostic criteria of Treacher Collins syndrome include
microtia and malformed ears, hypoplastic midface,
downslanting of the palpebral fissures, coloboma of the outer
third of the lower eye lids, and micrognathia. Most patients
have normal intelligence
One-third of the patients have cleft palate or velopharyngeal

insufficiency
Experimental embryologic studies using vitamin A and

isotretinoin produced similar changes in rats, hamsters, and
mice. Hypersensitivity of the mother to vitamin A has also been
suggested. The proposed gene location is 5q11
Waardenburg Syndrome
Along with congenital sensorineural deafness there are multiple
congenital anomalies. Other findings include craniosynostosis,
blepharophimosis, glaucoma, mild prognostic mandible,
Hirschsprung megacolon, premature graying of hair,
anophthalmia with limb malformations, ventral septal defects,
meningocele, spina bifida, hypoplasia of the shoulder girdle,
and axillary webbing
Symptoms include deafness, broad nasal bridge, hypoplastic
alae nasi, high-arched or cleft palate, abnormal vestibular
function, and hypoplastic ear cartilage
Waardenburg syndrome, type I (WSI) and WSIII have been
mapped to a distal portion of 2q3 and found associated with
PAX3 mutations.
Etiology
Genetic mapping of families with inherited forms of cleft
palate has resulted in the identification of genes involved in
palate development. Cleft palate associated with
ankyloglossia, an X-linked disorder, was shown to be
caused by mutations of the TBX22 gene. TBX22 is a
member of the T-box gene family, which are transcription
factors in vertebrates involved with mesoderm direction.
Specifically, TBX22 is expressed in the palatal shelves just
prior to their elevation above the tongue. Mutations in this
gene result in cleft palate due to loss of TBX22 function.
Adapted from: Wiet, GJ. Cleft Palate. Available at: www.emedicine.com. 2010
ETHANOL/ALKOHOL
Alcohol crosses the placenta and rapidly reaches the
fetus. Extensive studies have demonstrated equivalent
fetal and maternal alcohol concentrations, suggesting
an unimpeded bidirectional movement of alcohol
between the 2 compartments. The fetus appears to
depend on maternal hepatic detoxification because the
activity of alcohol dehydrogenase (ADH) in the fetal
liver is less than 10% of that observed in the adult
liver. Furthermore, the amniotic fluid acts as a
reservoir for alcohol, prolonging fetal exposure.
Adapted from: Vaux, KK. Fetal Alcohol Sydrome. Available at: www.emedicine.com. 2010
ETHANOL/ALKOHOL
The mechanism for the spectrum of adverse effects on virtually
all organ systems of the developing fetus is unknown. Ethanol
and its metabolite acetaldehyde can alter fetal development by
disrupting cellular differentiation and growth, disrupting DNA
and protein synthesis and inhibiting cell migration. Both
ethanol and acetaldehyde modify the intermediary metabolism
of carbohydrates, proteins, and fats. Both also decrease the
transfer of amino acids, glucose, folic acid, zinc, and other
nutrients across the placental barrier, indirectly affecting fetal
growth due to intrauterine nutrient deprivation. Elevated levels
of erythropoietin in the cord blood of newborns exposed to
alcohol are reported and suggest a state of chronic fetal
hypoxia.
THALIDOMIDE
Thalidomide, a synthetic glutamic acid derivative, is an
immunomodulatory agent with anti-inflammatory,
antiangiogenic, and sedative and hypnotic activity; the
drug is also a potent teratogen.
Thalidomide is labeled by the US Food and Drug
Administration (FDA) for treatment of moderate to severe
erythema nodosum leprosum (ENL), multiple myeloma,
inflammatory and/or dermatologic disorders, variety of
uses in HIV-infected patients, variety of malignancies,
graft-versus-host disease† (GVHD), recurrent aphthous
stomatitis† (RAS), GI Disorders ,etc.
THALIDOMIDE
Thalidomide inhibits angiogenesis, and it has been suggested that
the teratogenic effects of thalidomide on fetal limbs may be
related to inhibition of blood vessel growth in the developing fetal
limb bud. Thalidomide’s anti-angiogenic effects have been
demonstrated in several animal angiogenesis models; however,
there is evidence that the drug’s anti-angiogenic effects may be
species specific and possibly may be related to a species-specific
metabolite and/or metabolic activation. Thalidomide reduced the
area of vascularization in a rabbit corneal model of induced
neovascularization. The drug also inhibited angiogenesis in a rat
aorta model and in human aortic endothelial cells when human or
rabbit microsomes were present, but not when rat microsomes
were present.
FENITOIN
Phenytoin is a hydantoin-derivative anticonvulsant.
GESTASIONAL DM
The pathogenesis of fetal malformations associated with

pre-existing diabetes is poorly understood but may be
multifactorial and related to nutrient deficiencies or toxic
metabolites. Hyperglycemia, hypoxia, ketone and amino
acid abnormalities, and glycosylation of proteins have been
reported as potential teratogens that may alter molecular
signalling pathways and adversely affect embryogenesis
Adapted from:
Allen,, VM and Armson BA. Teratogenicity Associated With Pre-Existing and Gestational
Diabetes. No. 200, November 2007
GESTASIONAL DM
Palatogenesis is a complex process driven by cellular

signals which regulate cell growth and apoptosis.
Dysregulation of cellular signals by maternal
hyperglycemia can result in fetal malformations. Maternal
immune stimulation may prevent dysregulation of these
signaling pathways thus reducing fetal malformations and
normalizing palate growth.
Adapted from:
Hrubec, TC,et al. Modulation of Diabetes Induced Palate Defects by Maternal Immune
Stimulation ,2009
DEF. ASAM FOLAT
The biologically active form of folic acid is tetrahydrofolic acid
(THFA), which is derived by the 2-step reduction of folate
involving dihydrofolate reductase. THFA plays a key role in the
transfer of 1-carbon units (such as methyl, methylene, and
formyl groups) to the essential substrates involved in the
synthesis of DNA, RNA, and proteins. More specifically, THFA
is involved with the enzymatic reactions necessary to synthesis
of purine, thymidine, and amino acid. Manifestations of folate
deficiency thereafter, not surprisingly, would involve
impairment of cell division, accumulation of possibly toxic
metabolites such as homocysteine, and impairment of
methylation reactions involved in the regulation of gene
expression, thus increasing neoplastic risks.
Adapted from: Gentili, A. Folic Acid Deficiency. Available at: www.emedicine.com. 2009
ROKOK/TOBACCO
ROKOK/TOBACCO
Adapted from: Shepard, TH and Lemire, RJ. Catalog of Teratogenic Agents.

Feeding an Infant with a Cleft Palate
Regardless of what feeding system you choose for your baby,
most health care providers agree that breast milk is the best
food for newborns. (The American Academy of Pediatrics
recommends breast milk for children up to one year of age.) If
using breast milk is not an option, your health care provider
will help you select the most appropriate formula for your
baby based on nutritional composition and compatibility with
his or her digestive system. If the formula is to be mixed or
diluted, read the directions on the product label carefully to
assure correct measurement.

There are several different bottles and nipples on the
market that have been specifically designed for children
born with clefts. When choosing feeding supplies, you
may want to look for the following features:
• a soft, thin-walled nipple that compresses easily;
• a nipple that allows the milk to flow at a moderate
pace, neither too fast nor too slow;
• and a method that does not interfere with the normal
swallowing mechanism or the normal activity of the
oral-facial muscles.

OBTURATOR
A device used to block a passage or a canal or to fill in a
space, such as a prosthesis implanted to bridge the gap
in the roof of the mouth in a cleft palate.
OBTURATOR
A palatal plate is a prosthetic device, generally consisting of
an acrylic plate and retention clasps of orthodontic wire,
which covers a fistula of the palate. It may be used to aid
in improving articulation and feeding. The blockage of the
opening helps improve hypernasality and suckling ability
for babies.
Individuals who use palatal plates must be monitored
periodically by their dental professionals due to possible
tissue rejection of the plate.
The von Langenbeck repair
Adapted from:
Patel, PK. Craniofacial, Cleft Palate Repair. Available at: www.emedicine.com. 2010
The von Langenbeck repair
Complications
• Hemorrhage during surgery and postoperatively
• Postoperative airway obstruction
• Wound dehiscence
• Complete
• Incomplete: fistula, most common at the hard/soft
palate junction
• Velopharyngeal insufficiency. Despite speech therapy,
approximately 30 % of patients require additional
surgery for hypernasal speech.
Adapted from:
Perry, RJ and Jr.Lore,RM.Cleft Lip and Palate in: Lore and Medina: An Atlas of Head and
Neck Surgery. 2005
Palatoplasty for a cleft of the secondary palate
V-Y advancement.
Teknik Furlow (double reversing Z-plasty)
Two-flap palatoplasty
Two-flap palatoplasty.
(A) Mucoperiosteal flaps raised with intact greater palatine vessels.
(B) Closure completed anteriorly up to the posterior alveolar margin.
Velopharyngeal Insufficiency
Velopharyngeal insufficiency (VPI) is the term used to describe
the failure of the sphincter formed by the soft palate and the
pharyngeal walls. The sphincter should close for swallowing,
vomiting and all the consonants in the English language apart
from /m/n/ and /ng/. During speech, if the sphincter does not
close appropriately then air escapes into the nose, producing
nasal escape and/or turbulence. In addition, the resonance of
the speech becomes hypernasal. As a consequence of the failure
of this sphincter, the child may attempt to halt the airstream by
closing the anterior nares in a nasal grimace, or develop
compensatory articulation such as a pharyngeal fricative
or a glottal stop
VPI is seen in approximately 20–25% of children following

a cleft palate repair. It cannot be cured by speech therapy
and will normally require further surgery or, if that is not
possible, some form of speech bulb or palatal lift appliance
The velocardiofacial syndrome (VCFS) is a heterogeneous

disorder that usually is caused by a microdeletion in
chromosome 22, band 22q11.2
If a structural problem in velopharyngeal function exists,
or speech therapy alone is ineffective, surgical options are
considered. These include intravelar veloplasty, Furlow
double-opposing Z -plasty, sphincter pharyngoplasty, and
superiorly based pharyngeal flap. The intravelar
veloplasty and Furlow attempt to improve function by
reorienting the levator. The (sphincter) pharyngoplasty
borrows lateral wall tissue to obturate the lateral and
posterior walls. The pharyngeal flap borrows tissue from
the posterior wall to obturate the middle portion of the
velopharynx.
Adapted from: Cummings: Otolaryngology: Head & Neck Surgery, 4th ed. 2005
Submucous CP
The presence of a bifid uvula, notch in the posterior hard
palate caused by the absence of the posterior vomerine
spine, and translucent zone in the midline of the soft palate
represent the classic findings of a submucous cleft palate
(SMCP)
The cause for the palatal dysfunction seen in patients with

SMCP may involve several factors. Abnormal insertion of
the levator palatini into the posterior margin of the hard
palate and diathesis of the muscularis uvulae may result in
the inability of the posterior margin of the soft palate to
fully contact the pharyngeal wall.
Adapted from: Cummings: Otolaryngology: Head & Neck Surgery, 4th ed. 2005
Velocardiofacial Syndrome
This syndrome, also known as 22Q11 deletion syndrome, Catch
22 syndrome or Sphrintzen syndrome, is associated, in over
90% of cases, with a deletion at the Q11 region of chromosome
22, which can be detected on fluorescent in situ hybridisation.
This syndrome has a wide variety of features – the main ones of

which are VPI, a typical facial appearance, severe cardiac
abnormalities and significant learning difficulties. It is an
autosomal dominant condition. Some of these children have
overt clefts, but submucous clefts are more likely, and indeed
the majority of them have no cleft at all.
A Simonart's band
A Simonart's band is a thin remnant of tissue in the floor

of the nasal vestibule bridging the medial and lateral lip
elements across the cleft. The tissue may consist of skin
and/or mucosa and subcutaneous tissue with or without
muscle fibers. The origin of the term is obscure, but many
attribute it to Pierre Joseph Cécilien Simonart, a Belgian
obstetrician (1817-1847).
Adapted from: Javek, BW and Murrow BW. ENF Secret.

Describe the approach to feeding in infants with
cleft lip/palate.
Cleft lip-only patients may require little or no intervention, and
many are able to breast-feed or use regular bottle nipples.
Children with cleft palate or cleft lip/cleft palate are at a
disadvantage, given the anatomic and functional deficits caused
by a cleft. An inefficient suckle can lead to expending too much
energy for feeding, long feeding times, and subsequent poor
weight gain or even dehydration. Strategies developed to assist
these children include special nipples and bottles (e.g., Haberman
Feeder, Mead Johnson squeeze bottle, Pigeon feeder) and the
fabrication of palatal obturators or prosthesis. The obturator not
only acts to aid in feeding but often can be used to help reshape
the protruded premaxilla and reposition lateral maxillary
segments
What percentage of children with cleft palate have
middle ear disease? How is it treated?
Virtually all children younger than 2 years of age with an

unrepaired cleft have an effusion of the middle ear.
Persistence of an effusion in young children leads to
variable levels of hearing loss. Hearing loss during early
childhood may lead to difficulties in speech and language
development. The majority of centers treating children
with clefts recommend tube placement during the first
year of life-sooner if effusions become infected or hearing
is markedly impaired. During a cleft lip repair, the first set
of tubes is often placed.

What is presurgical nasoalveolar molding?
Presurgical nasoalveolar molding is basically presurgical

orthodontics. An anterior palatal obturator is fabricated.
The obturator may help the child in feeding. The obturator
is then progressively modified to move the lateral
maxillary segments. The protuberant premaxilla can be
moved posteriorly, and attachments can be added to
lengthen the short columella. Nasoalveolar molding is most
beneficial in wide complete bilateral clefts of the lip and
palate, but increasing use is being seen in unilateral clefts

List possible postoperative complications of
cleft palate repair.
•Bleeding
•Fistula (5-35%)
•VPI
•Postoperative upper airway obstruction

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PRESENTASI KASUS

Palatoskisis  cacat sejak lahir yang cukup sering

Di Inggris prevalensi labioskisis dan palatoskisis

Di Indonesia kita dapat menemukan cukup banyak anak-anak

Menyusui Bicara Gangguan Telinga

Pertumbuhan & Perkembangan Anak

• Fase I : umur 4-5 minggu

4th week GA Proc. Maksilaris

Proc. Frontonasalis 5th week GA (early)

Stomatodeum Proc. Mandibularis

Stomatodeum Proc. Mandibularis

5th week GA (late)

Proc. Nasalis Medialis

Proc. Nasalis Lateralis

Proc. Nasalis Medialis

Proc. Nasalis Lateralis

• Usia kehamilan 6-7 minggu : proc nasal media

• Proc maxillaris lateralis membentuk :

• Proc maxillaris lateralis membentuk proc palatina

Palatum mole terdiri atas lima pasang otot dan sebuah

Sistem otot dari palatum mole  memisahkan antara

Bernapas, sisi posterior palatum mole hampir vertikal

Berbicara atau menelan, sistem otot palatum mole  lebih

Foramen palatina mayor  arteri dan nervus palatina

Foramen palatina minor  arteri dan nervus palatina

Tidak terbentuknya secara sempurna palatum mole dan

Adaped from: Sadler TE. Embriologi Kedokteran Langman. 2000

• Sindromik : Ditemukan juga kelainan lain

• Transmisi gen tunggal  AD,AR,X-linked

Terjadinya palatoskisis nonsindromatik diperkirakan

Fase Embriologik Pembentukan Palatum

BAYI  Kesulitan Menyusui  Gangguan tumbuh

Anak-anak  Kesulitan makan-minum  Gangguan

Pemeriksaan fisik: Celah pada langit-langit mulut

 Memisahkan rongga mulut dengan rongga hidung

Adapted from: Dyleski, RA. Surgical Altas of Pediatric Otolaryngology,

Usia yang tepat untuk perbaikkan  perdebatan

Adapted from: Dyleski, RA. Surgical Altas of Pediatric Otolaryngology,

Adapted from: Dyleski, RA. Surgical Altas of Pediatric Otolaryngology,

Terganggunya pertumbuhan dan perkembangan bayi

• Nama : Sdr. AAW

Keluhan utama: Terdapat celah pada langit-langit mulut

Namun kemudian keluhan berkurang karena pasien

Pasien juga pernah menjalani operasi penutupan celah

► Riwayat alergi disangkal

► Riwayat kencing manis disangkal

► Riwayat kelainan jantung disangkal

• Riwayat menderita sakit selama hamil disangkal

• Riwayat menngkonsumsi obat/jamu selama kehamilan

•Riwayat menderita kelainan bawaan yang sama disangkal

•Riwayat menderita cacat saat lahir disangkal

•Riwayat kencing manis disangkal

► Celah pada langit-langit mulut

► Riwayat operasi penutupan celah

Status Lokalis (PX. THT):

Tanggal 26 Januari 2011:

Tanggal 27 Januari 2011:

S: Nyeri pada rongga mulut (+), Terasa berdarah (-),

Tanggal 28 Januari 2011:

S: Nyeri berkurang, Terasa berdarah (-), demam (-)

Tanggal 29 Januari 2011:

S: Nyeri (-), Terasa berdarah (-), demam (-)

Tanggal 30 Januari 2011: