11/20/2015 Comprehensive Management of Cleft Lip and Palate

11/20/2015 Comprehensive Management of Cleft Lip and Palate

Pediatric Grand Rounds ‐ University of TX Health Science Center
11/18/2015
OUTLINE
Epidemiology
Anatomy & Embryology
Classification of Cleft Types
Multidiscipline team management
Associated Pathology
COMPREHENSIVE MANAGEMENT OF
CLEFT LIP & PALATE
Christine B. Taylor, MD
Christian L. Stallworth, MD
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Surgical and non-surgical treatments/ timing of therapies
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DISCLOSURE
The presenters have no relationships with commercial companies to disclose.
EPIDEMIOLOGY
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LEARNING OBJECTIVES
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EPIDEMIOLOGY
Incidence:
At the end of this presentation, the participant will be able to:
 1. Describe the etiology, basic embryology, and anatomy of cleft lip & palate
 2. Understand the treatment strategies for caring for cleft patients
 3. Improve his/her understanding of the multidisciplinary care required to care for
cleft patients, from birth to adolescence
 Cleft lip & palate (CLP) occurs in approximately
1/680 – 750 births in U.S.
 Isolated CP (CPO) ½ frequency compared to CLP
 North America
 CLP 0.2 -2.3 cases per 1,000
 CPO 0.1 -1.1 cases per 1,000
Gender Prevalence:
 CLP - Male : Female ratio 1.5 – 2 : 1
 CPO - Male : Female ratio 1 : 2
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Pediatric Grand Rounds ‐ University of TX Health Science Center
EPIDEMIOLOGY
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ETIOLOGY
Ethnicity breakdown for CL/P
 Native American 3.6: 1000
 Asian 2.1/1,000
 Caucasian 1/1,000
 African American 0.4/1,000
 Hispanic 0.75 -1/1,000
Combination of Genetic + Environmental factors
Genetic Factors:
 TGFB3 (transforming growth factor beta 3)
 MSX1 (msh homeobox gene) – increased incidence when combined with tobacco/EtOH
 IRF6 (Interferon Regulatory Factor 6) – associated with Van der Woude Syndrome;
contributes to cleft in up to 12% cases
CPO has fairly stable incidence across ethnic
subgroups
Syndromic Association:
 50% CPO
 30% CL/P
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EPIDEMIOLOGY
PIERRE ROBIN SEQUENCE
Cleft Lip +/- Palate
(CLP)
Isolated Cleft
Palate (CP)
Occurrence
1:1000
1:2000
Ethnicity
Variable
Constant
Male:Female
2:1
1:2
Triad
 Micrognathia
 Glossoptosis
 Cleft palate (classically U-shaped)
Initial defect is hypoplasia of mandible
 May be 2/2 to oligohydramnios
14% of cases associated with congenital heart defects
Limb, ocular, rib, and sternal anomalies/abnormalities also described
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Unilateral (Left > Right)
ETIOLOGY
Genetic + Environmental factors
Environmental Factors:
 Parental age (increased)
 Congenital infections (Rubella)
 Medications (Thalidomide, Valproic acid,
phenytoin, retinoic acid, dioxin, trimethadione,
antineoplastic agents, glucocorticoids)
 Nutritional Factors (folic acid, obesity,
maternal diabetes – not gestational)
 Maternal tobacco use
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Bilateral
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PIERRE ROBIN SEQUENCE
Respiratory difficulty with periodic
cyanotic attacks
 Prone positioning, nasopharyngeal airway,
tracheotomy, distraction osteogenesis
• Prevalence 1:8,5000
• May occur as an isolated anomaly, but may also be feature of a syndrome
• Associated syndromes: Diastrophic dysplasia, Nager acrofacial dysostosis,
otopalatodigital syndrome, popliteal pterygium, Stickler, Shprintzen, del 6q,
Mobius, CHARGE
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Pediatric Grand Rounds ‐ University of TX Health Science Center
STICKLER SYNDROME
Hereditary arthro-opthlamopathy
Associated with Pierre Robin Sequence
Ocular anomalies – high myopia presenting before
age 10, retinal detachment, cataract, vitreous
degeneration, astigmatism, strabismus, glaucoma
Midfacial hypoplasia with short maxilla and
depressed nasal bridge and elongated philtrum
Hearing loss (both sensorineural and conductive)
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OTHER SYNDROMES ASSOCIATED WITH CLEFT
Goldenhar (Hemifacial microsomia, oculoaruiculvertebral dysplasia
spectrum, facioauriculovertebral sequence)
Apert (Acrocephalosyndactyly Type I)
Shprintzen
Treacher Collins
Marfan
Orofaciodigital syndrome type I (Papillon-League-Psaume) & Type II
Otopalatalodigital syndrome
Smith-Lemli-Opitz
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22Q11 SYNDROMES
FAMILY HISTORY
Microdeletions or additions
Incidence 1:4,000 births
Likelihood of clefting in a child given affected family members
DiGeorge, velocardiofacial, conotruncal
anomaly face syndrome
Family History
Other manifestations:
Cleft Lip +/- Cleft Palate
Cleft Palate
0.1%
0.04%
Unaffected parents with one
previously affected child
4%
2%
Two previously affected children
9%
1%
One affected parent
4%
6%
One affected parent and one
previously affected child
17%
15%
No family history
 Cardiac – conotruncal defects
 Defective Cell-Mediated Immune
 Hypertelorism, downward-slanting palpebral fissures
 Low set ears
 Choanal atresia
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VAN DER WOUDE SYNDROME
PRENATAL DIAGNOSIS & COUNSELING
Autosomal Dominant
Associated with defective IRF6 pathway
(Interferon Regulatory Factor 6)
Congenital blind lower lip pits (paramedian,
bilateral)
Hypodontia, missing premolars/ bicuspids
Cleft lip/palate, submucous cleft
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50% of children with cleft lip & palate
have other abnormalities as well
 22% CLP patients have abnormal karyotype
Prenatal Ultrasound:
 24 weeks gestation: identify cleft lip 30-55% of
time (some variability due to US protocols)
 Ability to identify CPO on US lower – closer to
1.5%, although imaging modalities improving
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PRENATAL DIAGNOSIS & COUNSELING
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ANATOMY
Goals of prenatal detection:
 Obtain genetic counseling
 Provide emotional support
 Treatment planning
Important to discuss recurrence risk with subsequent
pregnancies
Parental education regarding feeding, comorbidities,
and counsel regarding expectations/timing of
procedures
 Pre-order special feeding supplies
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CLEFT ANATOMY
Cleft Lip
Unilateral:
 Orbicularis oris muscle abnormally inserts
onto anterior nasal spine on the non-cleft
side, and onto the nasal alar base on the
cleft side
Bilateral:
ANATOMY & EMBRYOLOGY
 Premaxilla positioned more anteriorly
 Prolabium does not contain orbicularis muscle
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ANATOMY
CLEFT ANATOMY
Cleft Palate
Deficiency of Primary/secondary palate +
musculature
Abnormal insertion of Levator veli palatini muscle
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LEVATOR VELI PALATINI MUSCLE
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EMBRYOLOGY
In cleft palate, the paired LVP muscles run
from the posterior palate in an anteriorposterior direction
3 abnormal insertion points:
 1. Posterior edge of hard palate
 2. Tensor veli palatini aponeurosis
 3. Superior pharyngeal constrictor muscle
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EMBRYOLOGY
Development of nose/upper lip begins during
EMBRYOLOGY
4th
week of gestation
Several pathways involved:
 Sonic hedgehog (SHH), wingless type (Wnt), bone morphogenic protein (BMP), fibroblast growth factor
(FGF)
Fusion of frontonasal & maxillary
processes begins at 32 days
Upper lip development typically
complete by 48th day gestation
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EMBRYOLOGY
EMBRYOLOGY
8th week: tongue withdraws from position between
lateral maxillary prominences  shift from vertical
to horizontal position and fuse
 Several mechanisms believed to contribute to migration
 Increased mesenchymal proliferation + increased tissue fluid
content
 Signaling pathways: platelet-derived growth factor, FGF10, SHH,
and TGFbeta-3
• University of Indiana – Development of Face and Palate
Judith A. Stoffer, MA; Commissioned by Valerie Dean O’Loughlin, Ph.D, Professor of Anatomy
Indiana University Bloomington
http://www.indiana.edu/~anat550/hnanim/face/face.html
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EMBRYOLOGY &
ANATOMY
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CLEFT PALATE
Unilateral vs. Bilateral
Primary vs. Secondary
Complete vs. Incomplete
Submucous Cleft
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UNILATERAL INCOMPLETE CLEFT LIP
CLEFT CLASSIFICATION
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CLEFT LIP
UNILATERAL COMPLETE CLEFT LIP & PALATE
Unilateral vs. Bilateral
Complete vs. Incomplete
Microform Cleft
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MICROFORM CLEFT
INCOMPLETE CLEFT PALATE
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BILATERAL INCOMPLETE CLEFT
COMPLETE CLEFT PALATE
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BILATERAL COMPLETE CLEFT LIP
BILATERAL COMPLETE CLEFT LIP & PALATE
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ISOLATED CLEFT OF SECONDARY PALATE
MULTIDISCIPLINARY CARE OF CLEFTRELATED ISSUES
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SUBMUCOUS CLEFT PALATE
CLEFT MANAGEMENT
Triad
 Bifid uvula
 Zona pellucida
 Notched hard palate or absent palatal spine
Multidisciplinary Approach
Medical management
Surgical management
Adjunctive treatments/therapies
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CLEFT NASAL DEFORMITY
Deviation of nasal bones toward cleft side
Shortened columella
Foreshortened medial crus of cleft side lower lateral
cartilage
Displacement of the caudal septum to Non-cleft side
Lateral, inferior, and posterior displacement of cleft
side alar base
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MULTIDISCIPLINARY CLEFT TEAM
Goals:
Convene regularly to evaluate &
discuss patient/family needs
Coordinate multi-specialty care
Consolidate case loads to maintain
expertise
Facilitate continuing education for
all team members
Plan short & long-term patient
management outcome measures
DDS
ENT
SLP
Pediatrics
NICU
Audiology
Reconstructive
Surgery
Genetics
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FEEDING THE CLEFT PATIENT
Wide complete clefts prevent seal on bottle or breast
 Inefficient suckling, tire more readily
 Swallow significant air
 Breast feeding feasible in CL only
Early SLP involvement
Special nipples and valve flow control system
 Meade-Johnson Cleft Palate Feeder
 Pigeon Cleft Palate Nipple and Bottle
 Special Needs Feeder (Haberman Feeder)
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EAR DISEASE/EUSTACHIAN TUBE DYSFUNCTION
Cleft children:
 Shorter ET compared to non-cleft children, and larger
angle between cartilage & TVP
 Deformed ET cartilage with less elastin
 TVP and LVP muscles have less contractile tissue &
more connective tissue
Results in more negative middle ear
pressure which leads to fluid accumulation =
middle ear effusion
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FEEDING DIFFICULTY
EAR DISEASE/EUSTACHIAN TUBE DYSFUNCTION
Modified Feeding Techniques
 Upright positioning
 More frequent/aggressive burping
 Placement of nipple in buccal area of opposite
cheek
Devices
 Palatal feeding prosthesis
 Syringe w rubber tubing
 Special Nipples/valve flow systems
All cleft palate patients have ETD
 Improves with palatoplasty, but functional obstruction still exists
70% of children with cleft palate obtain normal ET
function 6-10 years after repair
Cleft patients are more likely to develop
cholesteatoma due to retraction/ETD
 Prevalence of cholesteatoma in children with cleft palate
9.2% (compared to 6/100,000)
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OTITIS MEDIA WITH EFFUSION – CLEFT PALATE
SPEECH & LANGUAGE DEVELOPMENT
Conductive hearing loss
 Speech and language development
Eustachian Tube Dysfunction
 Eustachian Tube (ET) connects middle ear
to nasopharynx
 Depends on proper function of both TVP
and LVP muscles
 Children have shorter ET oriented in a
horizontal plane with smaller opening
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Considerations:
 Hearing Loss
 Velopharyngeal dysfunction
 Dentition
Early Speech Therapy involvement
 Frequent monitoring/re-evaluation
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Pediatric Grand Rounds ‐ University of TX Health Science Center
VELOPHARYNGEAL COMPETENCE
During phonation, velopharyngeal closure contributes
to oronasal resonance
Complete velopharyngeal closure requires
coordination of soft palate (velum) movement with
lateral & posterior pharyngeal walls
Velopharyngeal closure necessary for production of
 Consonant sounds
 Nasal resonance of all sounds except nasal sounds /m/, /n/,
/ng/
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VELOPHARYNGEAL INSUFFICIENCY
Evaluate pharyngeal closure pattern and size of gap (nasal
endoscopy)
 Coronal: movement of velum primarily responsible for velopharyngeal
closure, little contribution from lateral pharyngeal walls
 Sagittal: medial displacement of the lateral pharyngeal walls primarily
responsible for closure, little posterior movement of velum
 Circular: movement of velum and pharyngeal walls contribute to
sphincteric or purse-string closure
Management
 Speech Therapy
 Prosthetic devices (Obturator)
 Augmentation of pharyngeal wall
 Surgical Procedures
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ANATOMY OF VELOPHARYNGEAL COMPETENCE
HOARSENESS
Muscles of palatal sling:
 LVP, TVP, palatoglossus, palatopharyngeus,
musculus uvulae
Lateral and posterior pharyngeal
movement:
 salpingopharyngeus and superior pharyngeal
constrictors
Muscles innervated by pharyngeal plexus
(CN IX and X) except for TVP (CN V)
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VELOPHARYNGEAL INSUFFICIENCY
VPI = inability to close velopharyngeal sphincter
 Anatomic or structural deficit
 Nasal air escape and hypernasality during phonation
Hypernasality, nasal air emission (turbulence) during speech
Nasal regurgitation with deglutition, chronic rhinitis
Some data suggests higher prevalence of hoarseness/
vocal cord pathology in cleft palate patients
Laryngeal compensation for velopharyngeal dysfunction
VPI compensatory mechanisms
 Attempt to overcome insufficient air pressure in oral cavity
 Mechanisms include mid-dorsum palatal stops, posterior nasal
fricatives, velar fricatives, pharyngeal stops, pharyngeal fricatives,
and glottal stops.
 Glottal stops implicated in VC abnormalities and voice
disturbances/vocal strain
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AIRWAY ISSUES IN CLEFT PALATE
Higher risk for upper airway obstruction, particularly in
syndromal patients
Nasal obstruction due to deviation
PRS: Micro/Retrognathia, glossoptosis 
hypopharyngeal obstruction due to collapse of
epiglottis & tongue base
 Prone positioning, nasal or oral airway
Children will attempt to compensate to minimize nasal air escape
 Facial grimacing, hoarseness, low speech volume, compensatory misarticulations
Lower threshold for airway endoscopy in syndromal
children
SLP – document resonance, nasal air emission, consonant production errors,
speech intelligibility, speech acceptability.
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OSA
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PRE-SURGICAL LIP TAPING
Timing: 0-4 months
Normal pediatric OSA prevalence 2-3%
 3-12% with primary snoring
Helps to narrow cleft distance in
preparation for surgical repair
Cleft palate children more likely to have Sleep Disordered
Breathing
May also help reposition pro-labium
 SDB prevalence 22-65%
 OSA 8.5% (almost 3 x as likely as general peds pop)
Low threshold for Polysomnography (PSG) testing
 Reduce tension for repair
Can be used alone or with Pre-surgical
Orthopedics (PSO)
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AIRWAY / OSA
PRE-SURGICAL LIP TAPING
Children may experience increase in airway obstruction at
time of palatoplasty
 Decrease in functional airway space caused by closure of palate
 Tongue may be more swollen due to retractor placement
 Placement of nasal airway prior to extubation after palatoplasty
may help
Some patients have worsening of OSA symptoms after
cleft palate repair or after pharyngeal flap/VPI surgery
Role for mandibular distraction osteogenesis or tongue-lip
adhesion in PRS.
 Also consider trach and g-tube, if necessary
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PRE-SURGICAL ORTHOPEDICS (PSO)
Cleft Lip
Timing: starting at 2-4 weeks
Naso-Alveolar Molding (NAM)
Latham Device
Nasal Splints
SURGICAL INTERVENTIONS
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NAM
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POSTOPERATIVE CARE
Normal bottle or nipple feeding
resumed on POD #1
Adhesive strips left on wounds for ~3
days
Soft arm restraints as appropriate
Wounds cleaned with dilute H2O2 and
antibiotic ointment
Postop massage around 3 weeks for
scar contracture
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LIP ADHESION
TYMPANOSTOMY TUBE PLACEMENT
Timing: 6 -12 months
Timing: 2-4 weeks
In conjunction with palatoplasty
Goal is to convert complete cleft lip to incomplete cleft
Indications:
 Allows definitive surgical repair to be simpler and under less tension
 Can delay definitive lip repair to allow for solidification of maxillary
platform
May be used with or without use of orthopedic devices
 Conductive Hearing Loss (CHL)
 Chronic Otitis Media with Effusion (COME)
 Eustachian Tube Dysfunction (ETD)
Need for repeat sets of tubes
 May require T-tube placement
Long term sequelae (cholesteatoma)
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CLEFT LIP REPAIR
CLEFT PALATE REPAIR
Timing: 2-3 months
Timing: 9-14 months
Goals of Repair
Goals of Repair
 Reconstruct orbicularis oris muscle
 Camouflage scar
 Begin to restore nasal symmetry
 Separation of nasal & oral cavities
 Creation of competent
velopharyngeal valve for
swallowing & speech
 Preservation of midface growth
 Development of functional occlusion
Key Steps
 Closure of nasal floor
 Approximate orbicularis oris muscle
 Closure of lip and re-creation of philtrum
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Pediatric Grand Rounds ‐ University of TX Health Science Center
PALATOPLASTY
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PHARYNGEAL FLAP
Objectives
 Layered closure with minimal tension
 Reconstruction of the levator sling
Palatoplasty techniques
 Primary veloplasty (Schweckendiek)
 Bipedicled flap palatoplasty (von
Langenbeck)
 V-Y pushback palatoplasty
 Two-flap palatoplasty
 Furlow (double-opposing Z-plasty)
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VPI SURGERY
SPHINCTER PHARYNGOPLASTY
Timing: 3-5 years
Pharyngeal flap
 Large central gap with sagittal closure pattern and adequate lateral wall movement
 Goal is to create central obstruction to allow lateral pharyngeal walls close against flap,
and allow residual nasal airflow to pass through lateral ports.
Furlow double-opposing Z-plasty palatoplasty
 Small central gap with notched soft palate (indicates malposition of levator veli palatini)
Sphincter pharyngoplasty
 Coronal closure pattern
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PHARYNGEAL FLAP
CLEFT RHINOPLASTY
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TIMELINE
CLEFT RHINOPLASTY
Prenatal
Neonatal
(0-1mo)
• Refer to Cleft team
• Genetic counseling
• Same as above
• Feeding instructions, monitor growth
• Hearing screen
• PSO if appropriate
16-24
months
• Monitor speech & language; manage VPI
• Consider lip/nose revision prior to school
• Monitor ears/hearing
2-5 years • Assess development/psychosocial needs
• Monitor feeding & growth
• Cleft Lip repair
1-4 months • Monitor ears/hearing
5-15
months
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CLEFT RHINOPLASTY
REFERENCES
• Monitor feeding, growth, & development
• Cleft Palate repair
• Monitor ears/hearing – PE tubes
• Assess speech & language
• Monitor ears/hearing – PE tubes
• Monitor development
• Monitor speech & language; manage VPI
• Orthodontics (+/- alveolar bone grafting)
6-11 years • Monitor school & psychosocial needs
12-21
years
• Monitor school & psychosocial needs
• Orthodontics + restorative dentistry
• Rhinoplasty (if needed)
• Orthognathic surgery (if needed)
Bardach J. Salyer & Bardach’s Atlas of Craniofacial & Cleft Surgery. Volume II. Chapters 11 and 12 (Primary Unilateral Clef-Lip/Nose Repair, Correction of Secondary Unilateral Cleft-Lip
and nasal Deformities)
Clark JM, Skoner JM, Wang TD. Repair of the unilateral cleft lip/nose deformity. Facial Plastic Surgery. 2003; 19(1):29-39.
Flint et al. Cumming’s Otolaryngology. 6th ed. 2015. Chapters 187 and 188. (Cleft Lip & Palate, Velopharyngeal Dysfunction)
Gart MS, Gosain AK. Surgical management of velopharyngeal insufficiency. Clinics in plastic surgery. 2014 Apr: 41(2):253-70.
Grayson BH, Maull D. Nasoalveolar molding for infants born with clefts of the lip, alveolus, and palate. Clinics in Plastic Surgery. 2004 Apr; 31(2):149-58.
Hogan VM. A clarification of the surgical goals in cleft palate speech and the introduction of the lateral port control (l.p.c) pharyngeal flap. The Cleft Palate Journal. 1973 Oct; 10:331-45.
Johnson JT, Rosen CA, Bailey BJ. Bailey’s Head & Neck Surgery – Otolaryngology. 5th ed. 2014. Ch. 103 and 107 (Comprehensive Cleft Care, The Syndromal Child)
Jones LR, Tatum SA. Pearls for aesthetic reconstruction of cleft lip and nose defects. Facial Plastic Surgery. 2008 Jan; 24(1):146-51.
Setabutr D, Roth CT, Nolen DD, Cervenka B, Sykes JM, Senders CW, Tollefson TT. Revision rates and speech outcomes following pharyngeal flap surgery for velopharyngeal insufficiency. JAMA
Facial Plastic Surgery. 2015 May-Jun; 17(3): 197-201.
Sie KCY, Chen EY. Management of Velopharyngeal Insufficiency: Development of a protocol and modifications of sphincter pharyngoplasty. Facial Plastic Surgery. 2007; 23(2):128-39.
Sykes JM, Tollefson TT. Management of the cleft lip deformity. Facial Plastic Surgery Clinics of North America. 2005 Feb; 13(1):157-67.
Tewfik TL. Cleft Lip and Palate and Mouth and Pharynx Deformities. Medscape. April 2015. http://emedicine.medscape.com/article/837347-overview
Van Aalst JA, Kolappa KK, Sadove M. MOC-PSSM CME article: Nonsyndromic cleft palate. Plastic and Reconstructive Surgery. 2008 Jan; 121:1-14.
Photo credits:
Brackmann DE et al. Otologic surgery. 3rd ed. 2010. Chapter 6 (Surgery of Ventilation and Mucosal Disease)
Kanishiro NK. Eustachian Tube. Medline. May 2015. https://www.nlm.nih.gov/medlineplus/ency/imagepages/19596.htm
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TIMING OF THERAPEUTIC PROCEDURES
Lip Adhesion: 2-4 weeks
Correction of VPI: 3-5 years
PSO/NAM: 2-4 weeks
Intermediate rhinoplasty: 3-5 years
Cleft Lip Repair: 2-3 months
Orthodontia: 6-12 years
PE Tube placement: 6 -12 months
Alveolar bone grafting: 8-12 years
Cleft Palate Repair: 10-14 months
Definitive Septorhinoplasty: postadolescence
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