Choanal Atresia

Essie Fine
May 31, 2007
 Case Presentation
 You are asked to see a neonate born at 36
weeks for intermittent cyanosis.
 Birth history: born to G4P3 mother, by c-
section for placenta previa. Apgars are 8,
9. The neonate then desaturates at 7
minutes of life. She is bag ventilated and
recovers.
 History: No birth defects in family.
Uneventful pregnancy. No exposures.
 Exam
 Mouth breathing, retracting slightly at neck
 Shortened palpebral fissures with no visible globe
 Left cleft nare
 Ankyloglossus
 Low set ears
 Normal fingers
 RRR no murmurs
 Abdomen soft, no organomegaly
 Cannot pass catheter or FFO scope either nare
 Nasopharyngeal obstruction
DDx
 Vascular - hemangioma
 Infectious - Chlamydia
 Traumatic- septal hematoma, dislocated nasal septum
 Autoimmune – sarcoid, RA, churg-strauss
 Metabolic – cystic fibrosis
 Iatrogenic/idiopathic – septal hematoma, dislocated nasal septum,
kartageners
 Neoplasia – hamartoma, nasopharyngeal mass hairy polyp,
teratoma, chordoma, rhabdomyosarcoma, angiofibroma,
hemangiopericytoma, scc
 Congenital - Choanal stenosis/atresia, Piriform aperture stenosis,
Nasal glioma, Encephalocele, Meningocele, dermoid, Micrognathia,
Macroglossia, Treacher collins, Down’s syndrome, Cystic Hygroma,
Lingual thyroid, incisive canal cysts, nasolacrimal duct cyst,
dentigerous cysts
Nasal endoscopy

Right Left
 CT scan

Different Pathology

Her scan
 CT scan evaluation
 Choanal airspace measurement:
mean normal is 0.67cm. Mixed
atresia is 1/3 of normal, bony atresia
measures 0.
 Vomer width – Mean 0.23cm, bony
atresia mean 0.6cm, membranous
atresia 0.3 cm.
Slovis TL et al. Choanal Atresia: Precise CT Evaluation. Radiology. 1985;155:345-348.
 Epidemiology
 1:5000-1:8000 live births
 50% with other anomalies
 65-75% unilateral. 75% of bilateral cases have
other anomalies.
 Polydactyly, nasal-auricular and palatal
deformities, crouzon’s, craniosynostosis,
microencephaly, meningocele,
meningoencephalocele, facial asymmetry,
hypoplasia of orbit and midface, hypertelorism,
cleft palate
 29% bony, 71% mixed (brown et al)
 Typical presentation
 Bilateral – cyclic cyanosis relieved by
crying
 Unilateral – chronic nasal obstruction,
thick tenatious mucous
 anatomy
Bounderies of the atresia
plate:
 Superior: sphenoid

 Lateral: medial

pterygoid lamina
 Medial: vomer

 Inferior: horizontal

portion of the palatal

bone
 Anatomy
 Narrow nasal cavity lateral
obstruction by lat
pterygoid plate, Vomer
thickening, membranous
obstruction
 Medial pterygoid plate and
posterior vomer are
expanded by
endochondral bone
formation and
fibroepithelial membrane
that obstructs the
choanae
 Further work up
 As always, AIRWAY first
 Genetics evaluation
 Cardiology (EKG, Echo)
 Opthalmology evaluation
 Hearing
 UA (kidney)
 Management
 Unilateral delayed to allow
the patient to grow, and
reduce risk of restenosis
 Bilateral – creating oral
airway- Mcgovern nipple
with enlarged hole or two
side holes, surgical
correction vs tracheostomy
 Stimulate infant to cry,
intubate, bag ventilate if
obstructing in an
emergency
 Genetics consult, work up
for other anomalies
 Surgical Approaches
 Transnasal
 Transpalatal
 Transseptal
 Transnasal/transseptal
 Most common repair strategy now
that endoscopes are used
 Multiple techniques – all use either
mucosal flaps or stenting to prevent
restenosis
Transnasal
 Transnasal pros/cons
 Punching through the atretic plate is
essentially blind process – important to go
inferomedial to avoid sphenopalatine
artery, and drill parallel to palate to avoid
entering clivus, sphenoid
 Risks include all those of FESS, but
anatomy is abnormal and less predictable
 Does not impair development of dental
arches
 Uses equipment/techniques similar to
 Transnasal/transseptal

Cedin AC, Fujita R, Cruz OL: Endoscopic transeptal surgery for choanal atresia with a stentless folded-over-flap technique.
Otolaryngol Head Neck Surg 2006 Nov; 135(5): 693-8
 Transpalatal
•Include greater palatine for blood supply to
flap
•Subperiosteal elevation to leading edge of
hard palate
•Cutting burr used to drill the posterior vomer
and atretic plate.
•Stents placed
•Incision made 5 mm from dental arch

Tewfik et al., 2007

 Transpalatal drawback
 52% incidence of dental malocclusion
resulting from 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
 Syndromes
 CHARGE
 Treacher Collins
 Crouzon’s
 CHARGE syndrome
 Coloboma and/or CNS abnormalities
 Heart abnormality
 Atresia choanae
 Retardation of growth
 Genital defects (males)
 Ear anomalies/deafness

 Mutations on the CHD7 gene (located on Chromosome 8)

were found in 10 of 17 patients in a study conducted in the
Netherlands (Vissers, et al., 2004).
 A study in the US of 110 individuals with CHARGE syndrome
showed that 60% of those tested had a mutation on the
CHD7 gene (Lalani et al., 2006).
 CHARGE
 The percentages of the different
anomalies in CHARGE association are as
follows:
 Coloboma - 80%
 Heart defect - 58%
 Atresia of choanae - 100%
 Mental retardation - 94%
 Growth deficiency - 87%
 Genital hypoplasia in males - 75%
 Ear anomalies - 88%
 CHARGE
 Other features: kidney anomalies,
OCD Palmar crease, esophageal
atresia, tracheoesophageal fistula,
scoliosis, chronic middle ear
problems, clefts
 Treacher Collins
 Malar hypoplasia
 Colobomas
 Medial 2/3 lash without lashes
 Retrusive chin
 Class 2 malocclusion
 External ear anomalies
 SNHL
 Rarely choanal atresia
Which of the following are true
of Treacher collins syndrome
 A. Autosomal Recessive
 B. Mutation in the TCOF gene, coding
treacle
 C. Abnormal third branchial arch
development
 D. External ear anomolies are present but
there is no hearing loss
 E. Surgical correction typically at 7 years
of age.
 Embryogenesis
Nasal placodes invaginate to form
nasal pits 3-4 weeks of
gestation
These enlarge and burrow into
underlying mesoderm, forming
nasal pouches
Floor between nasal and buccal
cavity thins to form nasobuccal
membrane
Membrane ruptures at 6 weeks
gestation
Choanal atresia – cause unknown,
thought to be due either to
persistence of nasobuccal
membrane, buccopharngeal
membrane, or due to errors in
mesoderm migration
 Epidemiology
 1:5000-1:8000 live births
 50% with other anomalies
 65-75% unilateral. 75% of bilateral cases
have other anomalies
 Polydactyly, nasal-auricular and palatal
deformities, crouzon’s, craniosynostosis,
microencephaly, meningocele,
meningoencephalocele, facial asymmetry,
hypoplasia of orbt and midface,
hypertelorism, cleft palate
Embryogenesis
 Hemifacial microsomia
 Orbit
 Mandible
 Ear
 Facial nerve
 Soft tissue
 Defect of first and second branchial
arches - ? Vascular insult
 Treacher Collins
 Malar hypoplasia
 Colobomas
 Medial 2/3 lash without lashes
 Retrusive chin
 Class 2 malocclusion
 External ear anomalies
 SNHL