Ari DeRowe, M.D.Ari DeRowe, M.D.

Pediatric Pediatric OtolaryngologyOtolaryngology

Dana Children’s Dana Children’s HospitalHospital

Tel-Aviv Medical Tel-Aviv Medical CenterCenter

PEDIATRIC CRANIO-FACIAL ANOMALIES

DefinitionsDefinitions

MalformationMalformation DeformationDeformation DisruptionDisruption

SequenceSequence SyndromeSyndrome AssociationAssociation

MalformationMalformation

““a morphologic defect of an organ, a morphologic defect of an organ, part of an organ, or larger area of part of an organ, or larger area of the body resulting from an the body resulting from an intrinsically abnormal developmental intrinsically abnormal developmental process”process”

e.g., cleft lipe.g., cleft lip

DeformationDeformation

““abnormal form or position of a body abnormal form or position of a body part caused by nondisruptive part caused by nondisruptive mechanical forces”mechanical forces”

Usually late in fetal developmentUsually late in fetal development Mechanical, malformational or Mechanical, malformational or

functionalfunctional e.g., Potter e.g., Potter

DisruptionDisruption

““defect of an organ, part of an defect of an organ, part of an organ, or a larger area of the body organ, or a larger area of the body due to interference with a normal due to interference with a normal process”process”

Sporadic and rareSporadic and rare e.g., anmiotic bands leading to e.g., anmiotic bands leading to

amputationsamputations

SequenceSequence

““multiple defects that occur as a multiple defects that occur as a result of a single presumed result of a single presumed structural anomaly”structural anomaly”

e.g., Pierre Robin sequencee.g., Pierre Robin sequence

Pierre Robin SequencePierre Robin Sequence

SyndromeSyndrome

““pattern of multiple anomalies pattern of multiple anomalies believed to be pathogenetically believed to be pathogenetically related and not representing a related and not representing a sequence”sequence”

Pathogenesis less understood Pathogenesis less understood e.g., Treacher-Collins syndromee.g., Treacher-Collins syndrome

Sequence versus Sequence versus SyndromeSyndrome

Apert SyndromeApert Syndrome

Apert SyndromeApert Syndrome15.5 per million of live births

Bicoronal synostosis: 100%

Cleft palate: 30%

Deafness: 30%

Complex syndactyly: 100%

Acne vulgaris

Downward slanting lateral canthii

Upper lid ptosis

Other CNS abnormalitites (Hydrocephalus 10%)

Multiple suture Craniostenosis

CROUZON’S SYNDROMECROUZON’S SYNDROME

Incidence 1:25,000Incidence 1:25,000 33% sporadic33% sporadic Midface deficiencyMidface deficiency Shallow orbits Shallow orbits

(pseudo-proptosis)(pseudo-proptosis) Normal IQ and Normal IQ and

limbslimbs Hearing problemsHearing problems Multisutural.Multisutural.

AssociationAssociation

““nonrandom occurrence of a group nonrandom occurrence of a group of anomalies in multiple individuals, of anomalies in multiple individuals, not known to be a sequence or not known to be a sequence or syndrome”syndrome”

Alert clinicians to look for related Alert clinicians to look for related problemsproblems

e.g., CHARGE and VATERe.g., CHARGE and VATER

Choanal AtresiaChoanal Atresia

Management IssuesManagement Issues

Team approachTeam approach Otolaryngology issuesOtolaryngology issues

upper airway obstructionupper airway obstruction hearing Losshearing Loss speech Disordersspeech Disorders

Upper Airway Upper Airway ObstructionObstruction

Neonatal nasal obstructionNeonatal nasal obstruction Neonatal oropharyngeal obstructionNeonatal oropharyngeal obstruction Obstructive apneaObstructive apnea Airway maintenance during surgeryAirway maintenance during surgery

Neonatal Nasal Airway Neonatal Nasal Airway ObstructionObstruction

Obligate nose breathers until >3 Obligate nose breathers until >3 monthsmonths

Problems when mouths closed or Problems when mouths closed or feedingfeeding

e.g.., bilateral choanal/midface e.g.., bilateral choanal/midface hypoplasiahypoplasia

treatment with oral airwaytreatment with oral airway

Nasopharyngeal Teratoma in Nasopharyngeal Teratoma in newbornnewborn

Neonatal Oropharyngeal Neonatal Oropharyngeal Airway ObstructionAirway Obstruction

Posterior displacement of tonguePosterior displacement of tongue Neonates with retro/micrognathiaNeonates with retro/micrognathia TreatmentTreatment

nursing in prone positionnursing in prone position nasopharyngeal airwaynasopharyngeal airway tracheotomy if life threateningtracheotomy if life threatening

Usually relieved by 6 months of ageUsually relieved by 6 months of age

Child with Obstructive Child with Obstructive ApneaApnea

Variety of causesVariety of causes maxillary hypoplasia, narrow maxillary hypoplasia, narrow

nasopharynxnasopharynx retrognathia, micrognathiaretrognathia, micrognathia overcorrected VPI overcorrected VPI

Operative proceduresOperative procedures Adenotonsillectomy, laser reduction of Adenotonsillectomy, laser reduction of

tongue base, UPPP, mandible tongue base, UPPP, mandible advancement, laser reduction of advancement, laser reduction of supraglottis, tracheotomysupraglottis, tracheotomy

Pediatric OSAS: Pediatric OSAS: continuumcontinuum

Primary SnoringPrimary Snoring UARS = Upper Airway Resistance UARS = Upper Airway Resistance

SyndromeSyndrome OSAOSA

Sleep Disordered Breathing Sleep Disordered Breathing = SDB= SDB

Progressive OSA in infantProgressive OSA in infant

Obstructive Sleep Obstructive Sleep Apnea SyndromeApnea Syndrome

OSAS is a syndrome of disordered OSAS is a syndrome of disordered breathing characterized by a breathing characterized by a combination of combination of intermittent partialintermittent partial and/or and/or completecomplete airway obstruction airway obstruction occurring during sleep, leading to occurring during sleep, leading to hypoventilation (hypoxemia and hypoventilation (hypoxemia and hypercapnia) and sleep disturbance.hypercapnia) and sleep disturbance.

Breathing while awake appears to be Breathing while awake appears to be entirely normal, in most instancesentirely normal, in most instances

prevalence 2%prevalence 2% RDI > 5 ? Duration >3 months?RDI > 5 ? Duration >3 months?

EtiologyEtiology adenotonsillar hypertrophyadenotonsillar hypertrophy craniofacial syndromescraniofacial syndromes

Crouzon, Treacher-Collins, Pierre RobinCrouzon, Treacher-Collins, Pierre Robin maxillary hypoplasia, septal deviation, maxillary hypoplasia, septal deviation,

micro or retrognathia, choanal stenosis or micro or retrognathia, choanal stenosis or atresia, macroglossiaatresia, macroglossia

Down syndromeDown syndrome MPSMPS IatrogenicIatrogenic

Pediatric OSAS - Pediatric OSAS - complicationscomplications

decreased REM = poor quality sleepdecreased REM = poor quality sleep psychological outcomepsychological outcome

behavioral disturbancesbehavioral disturbances hyperactivityhyperactivity aggressionaggression depressiondepression hypersomnolencehypersomnolence learning difficultieslearning difficulties

CVSCVS growth and developmentgrowth and development enuresisenuresis

Intubation Method for Intubation Method for Mandibular HypoplasiaMandibular Hypoplasia

Handler and KeonHandler and Keon e.g.., Treacher-e.g.., Treacher-

Collins, Pierre Robin, Collins, Pierre Robin, and Goldenhar and Goldenhar patientspatients

Problems include:Problems include: Small mandibleSmall mandible GlossoptosisGlossoptosis TrismusTrismus Prominent maxillaProminent maxilla Cleft palateCleft palate

Method of IntubationMethod of Intubation

Method of Intubation Method of Intubation (cont.)(cont.)

Method of Intubation Method of Intubation (cont.)(cont.)

Hearing LossHearing Loss

CongenitalCongenital Usually conductiveUsually conductive Hemifacial microsomia, microtiaHemifacial microsomia, microtia Bilateral microtia – surgery when possibleBilateral microtia – surgery when possible Normal hearing ear – CROS hearing aidsNormal hearing ear – CROS hearing aids

AcquiredAcquired Usually ETD – require ventilation tubesUsually ETD – require ventilation tubes Tympanoplasty delayed until adolescenceTympanoplasty delayed until adolescence

Speech DisordersSpeech Disorders HypernasalityHypernasality

velopharyngeal insufficiencyvelopharyngeal insufficiency often corrected with speech therapy aloneoften corrected with speech therapy alone may need palatopharyngoplasty if persistsmay need palatopharyngoplasty if persists

HyponasalityHyponasality nasal obstructionnasal obstruction improves with correction of obstructionimproves with correction of obstruction

HoarsenessHoarseness 20% of children with VPI20% of children with VPI vocal cord nodules from compensatory maneuversvocal cord nodules from compensatory maneuvers may develop after endotracheal intubationmay develop after endotracheal intubation

Common SyndromesCommon Syndromes

Down syndromeDown syndrome Velocardiofacial Velocardiofacial

syndromesyndrome Pierre Robin Pierre Robin

sequencesequence Goldenhar Goldenhar

syndromesyndrome

Treacher-Collins Treacher-Collins syndrome syndrome

Apert and Crouzon Apert and Crouzon syndromessyndromes

CHARGE CHARGE associationassociation

Down Syndrome Down Syndrome (Trisomy 21)(Trisomy 21)

Most commonMost common 1 in 700 births1 in 700 births Maternal age >35 Maternal age >35

carries increased carries increased riskrisk

1866, described by 1866, described by John Landon DownJohn Landon Down

Airway and Airway and hearing problemshearing problems

Airway ConcernsAirway Concerns

Midface hypoplasiaMidface hypoplasia OSA in up to 50%OSA in up to 50% Adenotonsillectomy often insufficientAdenotonsillectomy often insufficient Subglottic narrowing, smaller Subglottic narrowing, smaller

tracheatrachea Atlantoaxial instability in up to 20%Atlantoaxial instability in up to 20%

Hearing ConcernsHearing Concerns Congenital and Acquired, overall high Congenital and Acquired, overall high

incidenceincidence Conductive hearing lossConductive hearing loss

more commonmore common small pinna, stenotic EAC, eustachian tube small pinna, stenotic EAC, eustachian tube

dysfunction, ossicular fixationdysfunction, ossicular fixation Sensorineural hearing lossSensorineural hearing loss

less commonless common ossification of basal spiral tract, temporal bone ossification of basal spiral tract, temporal bone

anomaliesanomalies Management: ventilation tubes, frequent Management: ventilation tubes, frequent

exams, and hearing aids as necessaryexams, and hearing aids as necessary

Velocardiofacial Velocardiofacial Syndrome (VCFS)Syndrome (VCFS)

Recognized in 1978Recognized in 1978 Autosomal dominantAutosomal dominant Deletion of Deletion of

chromosome 22chromosome 22 Congenital heart Congenital heart

disease, hypernasal disease, hypernasal speech, cleft palate, speech, cleft palate, learning disabilities, learning disabilities, & unusual facies& unusual facies

VCFS (cont.)VCFS (cont.)

Basicranial Basicranial angulationangulation

Causes long face, Causes long face, puffy eyelids, puffy eyelids, retruded mandible, retruded mandible, increased increased pharyngeal depthpharyngeal depth

VCFS (cont.)VCFS (cont.)

Vascular anomalies Vascular anomalies are very commonare very common

Anomalies of head Anomalies of head and neck vessels and neck vessels most common most common (almost 100%)(almost 100%)

Caution in Caution in planning VPI planning VPI surgerysurgery

Speech Concerns in Speech Concerns in VCFSVCFS

Palatal anomalies common (75%)Palatal anomalies common (75%) 80% occult, 20% overt80% occult, 20% overt 44% with submucous cleft and bifid 44% with submucous cleft and bifid

uvulauvula Increased pharyngeal depth Increased pharyngeal depth Severe hypernasalitySevere hypernasality Treatment: Speech therapy and Treatment: Speech therapy and

SurgerySurgery

Airway concerns in VCFSAirway concerns in VCFS

Common in the infant – multiple sourcesCommon in the infant – multiple sources Due to generalized hypotonia (especially Due to generalized hypotonia (especially

pharyngeal), retrognathia, laryngeal pharyngeal), retrognathia, laryngeal webs, and reactive airway diseasewebs, and reactive airway disease

Endoscopic assessment criticalEndoscopic assessment critical Tracheotomy rareTracheotomy rare Retrognathia, cleft palate, and UAO Retrognathia, cleft palate, and UAO

(Pierre Robin?)(Pierre Robin?)

Hearing Concerns in Hearing Concerns in VCFSVCFS

Minor ear Minor ear anomaliesanomalies

COME commonCOME common CHL in 75% (MEE)CHL in 75% (MEE) Due to ETD Due to ETD

(palate) & frequent (palate) & frequent immunopathyimmunopathy

Sensorineural HL Sensorineural HL in 15% - unilateral, in 15% - unilateral, mildmild

Pierre Robin SequencePierre Robin Sequence

Triad of palatal Triad of palatal cleft, cleft, micrognathia, and micrognathia, and glossoptosisglossoptosis

1923, credit to 1923, credit to French French stomatologiststomatologist

Incidence 1 in Incidence 1 in 85008500

PRS (cont.)PRS (cont.) Mandibular Mandibular

deficiencydeficiency Etiology can be Etiology can be

multiple (positional, multiple (positional, genetic, neurologic, genetic, neurologic, connective tissue connective tissue d/o)d/o)

Nonsyndromic Nonsyndromic (80%) or syndromic (80%) or syndromic (20%)(20%)

Airway Concerns (PRS)Airway Concerns (PRS)

Sher described 4 mechanisms for Sher described 4 mechanisms for cause of obstructioncause of obstruction

Management with nasopharyngeal Management with nasopharyngeal airway initially (up to 8 weeks)airway initially (up to 8 weeks)

Tracheotomy may be necessary if Tracheotomy may be necessary if other treatments failother treatments fail

Mechanisms of Mechanisms of Obstruction (PRS)Obstruction (PRS)

Hearing Concerns (PRS)Hearing Concerns (PRS)

Chronic otitis media with effusion Chronic otitis media with effusion commoncommon

Palatal abnormality (ETD)Palatal abnormality (ETD) Require multiple tympanostomy Require multiple tympanostomy

tubestubes

Treacher-Collins Treacher-Collins SyndromeSyndrome

Autosomal dominantAutosomal dominant 1 in 25,000 –50,000 1 in 25,000 –50,000

birthsbirths Bilateral Bilateral

abnormalities of 1abnormalities of 1stst and 2and 2ndnd branchial branchial archesarches

Hypoplasia of maxilla, Hypoplasia of maxilla, zygoma, and mandiblezygoma, and mandible

Downward slanting Downward slanting eyes with colobomas eyes with colobomas of lower eyelid and of lower eyelid and absence of eyelashesabsence of eyelashes

Airway Concerns (T-C)Airway Concerns (T-C)

Respiration easily compromised, Respiration easily compromised, especially if choanal atresia/stenosis especially if choanal atresia/stenosis presentpresent

Airway management extremely Airway management extremely difficultdifficult

OSA may develop – responds to OSA may develop – responds to tonsillectomy and/or mandibular tonsillectomy and/or mandibular advanceadvance

Hearing Concerns (T-C)Hearing Concerns (T-C)

Auricles are malformed or absentAuricles are malformed or absent Varying degrees of middle ear Varying degrees of middle ear

hypoplasia and ossicular hypoplasia and ossicular malformationmalformation

Bilateral CHL – 50 to 70dB Bilateral CHL – 50 to 70dB Surgery difficult at best, chance for Surgery difficult at best, chance for

success is poorsuccess is poor Hearing aids usually necessaryHearing aids usually necessary

Apert and Crouzon Apert and Crouzon SyndromesSyndromes

1906, Apert described a 1906, Apert described a child with child with acrocephalosyndactylyacrocephalosyndactyly

1912, Crouzon described 1912, Crouzon described mother & daughter with mother & daughter with craniofacial dysostosiscraniofacial dysostosis

Both are autosomal Both are autosomal dominantdominant

Incidence is ~ 15 to 16 Incidence is ~ 15 to 16 per 1,000,000 birthsper 1,000,000 births

Neonatal iatrogenic nasal obstruction

International Journal of Pediatric Otorhinolaryngology (2004) : DeRowe etal

Apert and CrouzonApert and Crouzon

CraniosynostosisCraniosynostosis HypertelorismHypertelorism ExopthalmosExopthalmos Maxillary Maxillary

hypoplasiahypoplasia

Airway concerns (A&C)Airway concerns (A&C)

Compromise of nasopharyngeal and Compromise of nasopharyngeal and oropharyngeal airway by cranial oropharyngeal airway by cranial synostosissynostosis

Serious risk for respiratory distress, OSA, Serious risk for respiratory distress, OSA, cor pulmonale and sudden deathcor pulmonale and sudden death

Treatment: ET intubation, tracheotomy Treatment: ET intubation, tracheotomy Sleep study for OSA – may need Sleep study for OSA – may need

tracheotomy if severetracheotomy if severe Cervical spine anomalies can occurCervical spine anomalies can occur

Hearing Concerns (A&C)Hearing Concerns (A&C)

Conductive hearing lossConductive hearing loss Due to ETD from decreased NP Due to ETD from decreased NP

spacespace Tympanostomy tubes often Tympanostomy tubes often

necessarynecessary

Goldenhar syndrome Goldenhar syndrome (Oculoauriculovertebral)(Oculoauriculovertebral)

Unilateral Unilateral craniofacial craniofacial malformationmalformation

11stst and 2 and 2ndnd arches arches 1 in 5600 births1 in 5600 births Sporadic (most)Sporadic (most) Vascular anomaly Vascular anomaly

during fetal life?during fetal life?

Goldenhar Syndrome Goldenhar Syndrome (cont.)(cont.)

Facial asymmetry, unilateral ear Facial asymmetry, unilateral ear deformities, and vertebral deformities, and vertebral malformationsmalformations

Upper eyelid colobomasUpper eyelid colobomas Auricular malformations, EAC Auricular malformations, EAC

stenosis, ossicular abnormalitiesstenosis, ossicular abnormalities Facial weakness in 10 to 20%Facial weakness in 10 to 20%

Hearing Concerns (GS)Hearing Concerns (GS)

Greater than 50% of patientsGreater than 50% of patients Usually conductive (ossicular Usually conductive (ossicular

malformation or absence, EAC malformation or absence, EAC atresia)atresia)

Sensorineural occasionallySensorineural occasionally

C.H.A.R.G.E.C.H.A.R.G.E.

ColobomaColoboma Heart defect (tetralogy of Heart defect (tetralogy of

Fallot,ASD,VSD)Fallot,ASD,VSD) Atretic choanaeAtretic choanae Retarded growth Retarded growth Genitourinary anomaliesGenitourinary anomalies Ear malformationsEar malformations

*must have 4 out of 6 categories*must have 4 out of 6 categories

Airway ConcernsAirway Concerns Choanal Atresia – Choanal Atresia –

bilateral more bilateral more common in CHARGE common in CHARGE associationassociation

Bilateral – immediate Bilateral – immediate airway support with airway support with oral airway, McGovern oral airway, McGovern nipple, or intubationnipple, or intubation

If definitive surgery If definitive surgery delayed b/c of other delayed b/c of other anomalies, anomalies, tracheotomy tracheotomy necessarynecessary

Hearing ConcernsHearing Concerns

External ear anomalies (vary widely)External ear anomalies (vary widely) Middle ear anomalies (absence of stapes, Middle ear anomalies (absence of stapes,

abnormal incus, absence of oval window)abnormal incus, absence of oval window) Inner ear anomalies (Mondini dysplasia of Inner ear anomalies (Mondini dysplasia of

pars inferior, absence of pars superior, pars inferior, absence of pars superior, and short cochlea)and short cochlea)

Deafness is of mixed type (“wedge” audio)Deafness is of mixed type (“wedge” audio)

Mid Facial DistractionMid Facial Distraction