choanal atresia2
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ExamExam
Mouth breathing, retracting slightly at neckMouth breathing, retracting slightly at neck
Shortened palpebral fissures with no visible globeShortened palpebral fissures with no visible globe
Left cleft nareLeft cleft nare Ankyloglossus Ankyloglossus
Low set earsLow set ears
Normal fingersNormal fingers
RRR no murmursRRR no murmurs
Abdomen soft, no organomegaly Abdomen soft, no organomegaly
Cannot pass catheter or FFO scope either nareCannot pass catheter or FFO scope either nare
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Nasopharyngeal obstruction DDxNasopharyngeal obstruction DDx
Vascular Vascular -- hemangiomahemangioma InfectiousInfectious -- ChlamydiaChlamydia TraumaticTraumatic-- septal hematoma, dislocated nasal septumseptal hematoma, dislocated nasal septum Autoimmune Autoimmune sarcoid, RA, churgsarcoid, RA, churg--straussstrauss MetabolicMetabolic cystic fibrosiscystic fibrosis Iatrogenic/idiopathicIatrogenic/idiopathic septal hematoma, dislocated nasal septum,septal hematoma, dislocated nasal septum,
kartagenerskartageners NeoplasiaNeoplasia hamartoma, nasopharyngeal mass hairy polyp, teratoma,hamartoma, nasopharyngeal mass hairy polyp, teratoma,
chordoma, rhabdomyosarcoma, angiofibroma, hemangiopericytoma, sccchordoma, rhabdomyosarcoma, angiofibroma, hemangiopericytoma, scc CongenitalCongenital -- Choanal stenosis/atresia, Piriform aperture stenosis, NasalChoanal stenosis/atresia, Piriform aperture stenosis, Nasal
glioma, Encephalocele, Meningocele, dermoid, Micrognathia, Macroglossia,glioma, Encephalocele, Meningocele, dermoid, Micrognathia, Macroglossia,Treacher collins, Downs syndrome, Cystic Hygroma, Lingual thyroid,Treacher collins, Downs syndrome, Cystic Hygroma, Lingual thyroid,incisive canal cysts, nasolacrimal duct cyst, dentigerous cystsincisive canal cysts, nasolacrimal duct cyst, dentigerous cysts
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Nasal endoscopyNasal endoscopy
Right Left
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CT scanCT scan
Her scan
Different Pathology
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CT scan evaluationCT scan evaluation
Choanal airspace measurement: meanChoanal airspace measurement: meannormal is 0.67cm. Mixed atresia is 1/3 of normal is 0.67cm. Mixed atresia is 1/3 of normal, bony atresia measures 0.normal, bony atresia measures 0.
Vomer width Vomer width Mean 0.23cm, bony atresiaMean 0.23cm, bony atresiamean 0.6cm, membranous atresia 0.3 cm.mean 0.6cm, membranous atresia 0.3 cm.
Slovis TL et al. Choanal Atresia: Precise CT Evaluation. Radiology. 1985;155:345-348.
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EpidemiologyEpidemiology
1:50001:5000--1:8000 live births1:8000 live births
50% with other anomalies50% with other anomalies
6565--75% unilateral. 75% of bilateral cases have other75% unilateral. 75% of bilateral cases have otheranomalies.anomalies.
Polydactyly, nasalPolydactyly, nasal--auricular and palatal deformities,auricular and palatal deformities,crouzons, craniosynostosis, microencephaly,crouzons, craniosynostosis, microencephaly,meningocele, meningoencephalocele, facial asymmetry,meningocele, meningoencephalocele, facial asymmetry,
hypoplasia of orbit and midface, hypertelorism, cleft hypoplasia of orbit and midface, hypertelorism, cleft palatepalate
29% bony, 71% mixed (brown et al)29% bony, 71% mixed (brown et al)
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Typical presentationTypical presentation
BilateralBilateral cyclic cyanosis relieved bycyclic cyanosis relieved bycryingcrying
UnilateralUnilateral chronic nasal obstruction,chronic nasal obstruction,thick tenatious mucousthick tenatious mucous
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anatomyanatomy
Bounderies of the atresiaBounderies of the atresiaplate:plate:
Superior: sphenoidSuperior: sphenoid
Lateral: medial pterygoidLateral: medial pterygoidlaminalamina
Medial: vomerMedial: vomer Inferior: horizontal portionInferior: horizontal portion
of the palatal boneof the palatal bone
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Anatomy Anatomy
Narrow nasal cavity lateralNarrow nasal cavity lateralobstruction by lat pterygoidobstruction by lat pterygoidplate, Vomer thickening,plate, Vomer thickening,
membranous obstructionmembranous obstruction Medial pterygoid plate andMedial pterygoid plate and
posterior vomer are expandedposterior vomer are expandedby endochondral boneby endochondral boneformation and fibroepithelialformation and fibroepithelialmembrane that obstructs themembrane that obstructs thechoanaechoanae
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Further work upFurther work up
As always, AIRWAY first As always, AIRWAY first
Genetics evaluationGenetics evaluation
Cardiology (EKG, Echo)Cardiology (EKG, Echo)
Opthalmology evaluationOpthalmology evaluation
HearingHearing UA (kidney)UA (kidney)
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Management Management
Unilateral delayed to allow theUnilateral delayed to allow thepatient to grow, and reducepatient to grow, and reducerisk of restenosisrisk of restenosis
BilateralBilateral creating oral airwaycreating oral airway--Mcgovern nipple with enlargedMcgovern nipple with enlargedhole or two side holes, surgicalhole or two side holes, surgicalcorrection vs tracheostomycorrection vs tracheostomy
Stimulate infant to cry,Stimulate infant to cry,intubate, bag ventilate if intubate, bag ventilate if obstructing in an emergencyobstructing in an emergency
Genetics consult, work up forGenetics consult, work up forother anomaliesother anomalies
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Surgical ApproachesSurgical Approaches
TransnasalTransnasal
TranspalatalTranspalatal
TransseptalTransseptal
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Transnasal/transseptalTransnasal/transseptal
Most common repair strategy now that Most common repair strategy now that endoscopes are usedendoscopes are used
Multiple techniquesMultiple techniques all use eitherall use eithermucosal flaps or stenting to prevent mucosal flaps or stenting to prevent restenosisrestenosis
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TransnasalTransnasal
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Transnasal pros/consTransnasal pros/cons
Punching through the atretic plate is essentiallyPunching through the atretic plate is essentiallyblind processblind process important to go inferomedial toimportant to go inferomedial to
avoid sphenopalatine artery, and drill parallel toavoid sphenopalatine artery, and drill parallel topalate to avoid entering clivus, sphenoidpalate to avoid entering clivus, sphenoid
Risks include all those of FESS, but anatomy isRisks include all those of FESS, but anatomy isabnormal and less predictableabnormal and less predictable
Does not impair development of dental archesDoes not impair development of dental arches
Uses equipment/techniques similar to FESSUses equipment/techniques similar to FESS
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Transnasal/transseptalTransnasal/transseptal
Cedin AC, Fujita R, Cruz OL: Endoscopic transeptal surgery for choanal atresia with a stentless folded-over-flap technique. Otolaryngol Head NeckSurg 2006 Nov; 135(5): 693-8
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TranspalatalTranspalatal
Tewfik et al., 2007
Include greater palatine for blood supply to flapInclude greater palatine for blood supply to flapSubperiosteal elevation to leading edge of hardpalateCutting burr used to drill the posterior vomer andatretic plate.Stents placedIncision made 5 mm from dental archIncision made 5 mm from dental arch
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Transpalatal drawbackTranspalatal drawback
52% incidence of dental malocclusion resultingfrom narrowed maxillary dental arches in
patients younger than 5 years Palatal flap necrosis
Palatal fistula
Persistent submucous tunnel
Restenosis Upside: success rate of over 80% is comparable
to all other approaches
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SyndromesSyndromes
CHARGECHARGE
Treacher CollinsTreacher Collins
CrouzonsCrouzons
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CHARGE syndromeCHARGE syndrome
Coloboma and/or CNS abnormalitiesColoboma and/or CNS abnormalities Heart abnormalityHeart abnormality Atresia choanae Atresia choanae
Retardation of growthRetardation of growth Genital defects (males)Genital defects (males) Ear anomalies/deafnessEar anomalies/deafness
Mutations on the CHD7 gene (located on Chromosome 8) wereMutations on the CHD7 gene (located on Chromosome 8) werefound in 10 of 17 patients in a study conducted in the Netherlandsfound in 10 of 17 patients in a study conducted in the Netherlands
(Vissers, et al., 2004).(Vissers, et al., 2004). A study in the US of 110 individuals with CHARGE syndrome showed A study in the US of 110 individuals with CHARGE syndrome showed
that 60% of those tested had a mutation on the CHD7 gene (Lalanithat 60% of those tested had a mutation on the CHD7 gene (Lalaniet al., 2006).et al., 2006).
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CHARGECHARGE
The percentages of the different anomalies inThe percentages of the different anomalies inCHARGE association are as follows:CHARGE association are as follows:
ColobomaColoboma -- 80%80% Heart defect Heart defect -- 58%58% Atresia of choanae Atresia of choanae -- 100%100% Mental retardationMental retardation -- 94%94%
Growth deficiencyGrowth deficiency -- 87%87% Genital hypoplasia in malesGenital hypoplasia in males -- 75%75% Ear anomaliesEar anomalies -- 88%88%
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CHARGECHARGE
Other features: kidney anomalies, OCDOther features: kidney anomalies, OCDPalmar crease, esophageal atresia,Palmar crease, esophageal atresia,
tracheoesophageal fistula, scoliosis,tracheoesophageal fistula, scoliosis,chronic middle ear problems, cleftschronic middle ear problems, clefts
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Treacher CollinsTreacher Collins
Malar hypoplasiaMalar hypoplasia
ColobomasColobomas
Medial 2/3 lash without lashesMedial 2/3 lash without lashes
Retrusive chinRetrusive chin
Class 2 malocclusionClass 2 malocclusion
External ear anomaliesExternal ear anomalies SNHLSNHL
Rarely choanal atresiaRarely choanal atresia
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Which of the following are true of Which of the following are true of
Treacher collins syndromeTreacher collins syndrome A. Autosomal Recessive A. Autosomal Recessive
B. Mutation in the TCOF gene, coding treacleB. Mutation in the TCOF gene, coding treacle
C. Abnormal third branchial arch development C. Abnormal third branchial arch development
D. External ear anomolies are present but thereD. External ear anomolies are present but thereis no hearing lossis no hearing loss
E. Surgical correction typically at 7 years of age.E. Surgical correction typically at 7 years of age.
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EmbryogenesisEmbryogenesis
Nasal placodes invaginate to formNasal placodes invaginate to formnasal pits 3nasal pits 3--4 weeks of gestation4 weeks of gestation
These enlarge and burrow intoThese enlarge and burrow intounderlying mesoderm, formingunderlying mesoderm, forming
nasal pouchesnasal pouchesFloor between nasal and buccal cavityFloor between nasal and buccal cavity
thins to form nasobuccal membranethins to form nasobuccal membraneMembrane ruptures at 6 weeksMembrane ruptures at 6 weeks
gestationgestationChoanal atresiaChoanal atresia cause unknown,cause unknown,
thought to be due either tothought to be due either topersistence of nasobuccalpersistence of nasobuccalmembrane, buccopharngealmembrane, buccopharngealmembrane, or due to errors inmembrane, or due to errors inmesoderm migrationmesoderm migration
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EpidemiologyEpidemiology
1:50001:5000--1:8000 live births1:8000 live births 50% with other anomalies50% with other anomalies
6565--75% unilateral. 75% of bilateral cases have75% unilateral. 75% of bilateral cases haveother anomaliesother anomalies Polydactyly, nasalPolydactyly, nasal--auricular and palatalauricular and palatal
deformities, crouzons, craniosynostosis,deformities, crouzons, craniosynostosis,microencephaly, meningocele,microencephaly, meningocele,
meningoencephalocele, facial asymmetry,meningoencephalocele, facial asymmetry,hypoplasia of orbt and midface, hypertelorism,hypoplasia of orbt and midface, hypertelorism,cleft palatecleft palate
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EmbryogenesisEmbryogenesis
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Hemifacial microsomiaHemifacial microsomia
Orbit Orbit
MandibleMandible
EarEar
Facial nerveFacial nerve
Soft tissueSoft tissue Defect of first and second branchial archesDefect of first and second branchial arches
-- ? Vascular insult ? Vascular insult
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Treacher CollinsTreacher Collins
Malar hypoplasiaMalar hypoplasia
ColobomasColobomas
Medial 2/3 lash without lashesMedial 2/3 lash without lashes
Retrusive chinRetrusive chin
Class 2 malocclusionClass 2 malocclusion External ear anomaliesExternal ear anomalies
SNHLSNHL