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Pediatric Syndromes
of Head and NeckMurtaza Z. Kharodawala, MD
Faculty Advisor: Matthew Ryan, MD
The University of Texas Medical Branch
Department of OtolaryngologyGrand Rounds Presentation,
November 17, 2004
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• More than 3,000 syndromes classified
• Optimal growth, development, and learningrequires early recognition and intervention
•
Team Approach: – Parents
– Pediatrician
– Otolaryngologist
– Cardiologist
– Nephrologist
– Geneticist
– Speech Therapist
– Teachers
– Others
The Sydromal
Child
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The Sydromal
Child
• History
– Parental factors (age)
– Consanguinity
– Abortions
– Teratogen exposure
– Medical Pedigree
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• Physical Exam
– Major and Minor Anomalies
• Airway
• Skull
• Ears
•
Facial skeleton – Comparison to Family Members
– Reference Material
The Sydromal
Child
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Down Syndrome
Velocardiofacial Syndrome
Branchio-Otorenal Syndrome
Treacher-Collins Syndrome
Crouzon and Apert Syndrome
Pierre Robin SequenceCHARGE Association
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DownSyndrome
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• Described by John Landon Down in
1866
• Etiology: nondisjuction mutation
resulting in Trisomy 21
• Prevalence 1:700
– Most common chromosomal anomaly
• Associated with Maternal age > 35
Down
Syndrome
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• Facial Characteristics – Macroglossia
– Micrognathia – Midface hypoplasia
– Flat occiput
– Flat nasal bridge
– Epicanthal folds – Up-slanting palpebral fissures
– Progressive enlargement of lips
Down
Syndrome
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Down
Syndrome
Picture From: Kanamori G: Otolaryngologic Manifestations of Down Syndrome. Otolaryngol Clin
North Am 33(6), 2000.
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• Airway Concerns
– Due to midface hypoplasia, the
nasopharynx and oropharynx dimensions
are smaller
• Slight adenoid hypertrophy can cause upper
airway obstruction – Congenital mild-moderate subglottic
narrowing not uncommon
• Post-extubation stridor
Down
Syndrome
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• Obstructive Sleep Apnea
–
Prevalence 54-100% in DS patients – Combination of anatomic and functional
mechanisms
• Midface hypoplasia, macroglossia, etc
• Hypotonia of pharyngeal muscles
Down
Syndrome
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• Obstructive Sleep Apnea
–
Management:• Polysomnography to confirm
• Medical interventions:
– CPAP
–
Weight Loss – Medications to stimulate respiratory drive
Down
Syndrome
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• Obstructive Sleep Apnea
– Management:
• Surgical
– Adenoidectomy and Tonsillectomy
» Controversial
– UPPP
– Partial tongue resection – Tracheotomy
Down
Syndrome
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• Otologic Concerns
– Small pinna, Stenotic EAC
• Cerumen impaction
– CHL
• ETD: PE tubes
•
Ossicular fixation: surgical correction – SNHL
• Progressive ossification along outflow
pathway of basal spiral tract
Down
Syndrome
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• Cardiovascular anomalies (40%)
– ASD, VSD, Tetralogy of Fallot, PDA
• GI anomalies (10-18%)
– Pyloric stenosis, duodenal atresia, TE
fistula
• Malignancy – 20 fold higher incidence of ALL
– Gonadal tumors
Down
Syndrome
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VelocardiofacialSyndrome
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• Oropharyngeal Findings:
– Apparent cleft palate (10-35%)
– Submucous cleft (33%)
– Submucous cleft and velar paresis (33%)
– Tonsils small or aplastic (50%)
– Adenoids small or aplastic (85%) – Malocclusion
– Hypernasal speech
VCFS
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• Airway Obstruction is common
– 50% of neonates with VCFS have OSA
– Adenotonsillectomy should be avoided if
not indicated
– Oral airway needed in urgent setting
– Cleft palate repair required
VCFS
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VCFS
Facial Findings:
•
Maxillary excess• Malar flatness
• Facial asymmetry
• Long philtrum• Thin upper lip
Pictures From: Shprintzen RJ: Velocardiofacial Syndrome. Otolaryngol Clin North Am 33(6), 2000.
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Nasal Findings:
• Prominent nasal root
• Large tip
• Pinched, hypoplastic alar
base
VCFS
Pictures From: Shprintzen RJ: Velocardiofacial Syndrome. Otolaryngol Clin North Am 33(6), 2000.
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• Ear findings
– Small auricles (48%)
– CHL secondary to serous effusions and
ETD (75%)
• PE tubes effective
–SNHL (8%)• Amplification devices
VCFS
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• Cardiovascular Findings
– 75-80% with cardiac anomalies
– 10% of patients with VCFS die in early
infancy due to these anomalies
– VSD (65%)
– Right sided aortic arch (35%) – Tetralogy of Fallot (20%)
– Aberrant subclavian artery (20%)
VCFS
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VCFS
MRA:
Tortuous andmedially deviated
internal carotid
artery
Pictures From: Shprintzen RJ. Velocardiofacial Syndrome. Otolaryngol Clin North Am 33(6), 2000.
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• Growth and mental retardation
• Flat affect and poor social interaction
with impulsive behavior
• Renal anomalies in 35%
• T cell dysfuction in 10% with
hypocalcemia
VCFS
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Branchio-Otorenal
Syndrome
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BORS
• First termed by Melnick et al in 1975
• 1 in every 40,000 births
•
Autosomal dominant inheritance – Isolated to 8q13.3 locus
• Characteristics: – Branchial cleft cysts or fistulas
– Preauricular pits – Malformed auricles
– Hearing loss
– Renal anomalies
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BORS
• Branchial cleft cysts and fistulas
– Present in 50-60% of cases
– Usually bilateral
– Found in lower third of neck
– Fistulas may connect to tonsillar fossa
• Facial nerve paralysis (10%)• Aplasia or stenosis of lacrimal duct
(25%)
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BORS
• External ear anomalies
– Auricular malformation (30-60%) or
abnormal position• Minor aberration of anatomy to severe microtia
– Helical or preauricular pits (70-80%)
• Middle ear anomalies – Malformation and/or fixation of ossicles
– Abnormal size/structure of the tympaniccavity
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BORS
Picture From: Gorlin et al: Syndromes of the Head and Neck . New York, Oxford University Press, 1990
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BORS
• Inner ear anomalies
(rare)
–
Dilated vestibule and/orendolymphatic duct/sac
– Bulbous internal auditory
canal
–
Small semicircular canals – Hypoplastic cochlea
• Mondini
Images From: Ceruti, S et al: Temporal Bone Anomalies in the Branchio-Oto-Renal Syndrome: Detailed ComputedTomographicand Magnetic Resonance Imaging Findings. Otology & Neurotology 23, 2002.
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BORS
• Hearing loss (75-95%)
– CHL (30%)
– SNHL (20%)
– MHL (50%)
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BORS
• Renal anomalies (12-20%)
– Likely underreported when a disease
process not involved – Renal agenesis or hypoplasia
– Structural anomalies of renal pelvis or
ureters
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BORS
• Diagnosis and Treatment
– History and Physical Examination
– Audiogram, CT temporal bones
– CT neck
– Renal Ultrasound, IVP
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BORS
• Diagnosis and Treatment
– Surgical excision of branchial cleft cyst,
sinus, or fistula – Otoplasty
– Excision of pits
–
Possible ossicular chain reconstruction – Hearing aids
– Urology consultation for renal anomalies
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Treacher
CollinsSyndrome
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TCS
• First described by Thomson and Toynbee in1846-7
– Later, essential components described byTreacher Collins in 1960
• Autosomal dominant inheritance – TCOF1, mapped to 5q32-33.1
•
60% are from new mutation – Associated with increased paternal age
• Prevalence of 1 in 50,000
• a.k.a. Mandibulofacial dysostosis
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TCS
• Characteristics – Likely due to abnormal migration of neural crest cells into
first and second branchial arch structures
– Usually bilateral and symmetric
– Malar and supraorbital hypoplasia
– Non-fused zygomatic arches
– Cleft palate in 35%
– Hypoplastic paranasal sinuses
– Downward slanting palpebral fissures
– Mandibular hypoplasia with increased angulation – Coloboma of lower eyelid with absent cilia
– Malformed pinna
– Normal intelligence
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TCS
Picture From: Cummings, CW: Otolaryngology: Head and Neck Surgery. St Louis, Mosby, 1998
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TCS
• OP/Airway concerns
– Cleft palate
–Choanal atresia may be present• Respiratory distress in newborn
• Oral airway, McGovern nipple
– Obstructive sleep apnea is the most common
airway dysfunction• Mandibular hypoplasia results in retrodisplacement of
tongue into oropharynx
• Oral airway, tracheotomy
• Distraction osteogenesis vs. free fibular transfer
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TCS
• Otologic concerns
– Malpositioned auricles
– Malformed pinna
– EAC atresia
– Ossicular abnormalities
– Conductive hearing loss is common• Hearing aids are effective
– Normal intelligence
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TCS
Picture From: Acosta, HL et al: Vertical Mesenchymal Distraction and Bilateral Free Fibula Transfer for Severe TreacherCollins Syndrome. Plastic & Reconstructive Surgery , 113(4), 2004.
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TCS
Picture From: Acosta, HL et al: Vertical Mesenchymal Distraction and Bilateral Free Fibula Transfer for Severe TreacherCollins Syndrome. Plastic & Reconstructive Surgery , 113(4), 2004.
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Apert and
Crouzon
• Belong to family of Craniosynostoses
• Apert Syndrome (Acrocephalosyndactyly) – First described by Wheaton in 1894
– Apert further expanded in 1906• Crouzon Syndrome (Craniofacial
Dysostosis) – Described by Crouzon in 1912
• Autosomal dominant inheritance – Most are sporadic in Apert Syndrome
– 1/3 are sporadic in Crouzon Sydrome
• Prevalence: 15 - 16 per 1,000,000
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Apert and
Crouzon
• Typical characteristics
– Craniosynostosis
• Coronal sutures fused at birth• Larger than average head circumference at
birth
– Midfacial malformation and hypoplasia
– Shallow orbits with exophthalmos
– Apert Syndrome: symmetric syndactyly of
hands and feet
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Apert and
Crouzon
• Crouzon and Apert Syndromes facial
features
– Shallow orbits with exophthalmos – Retruded midface with relative
prognathism
–
Beaked nose – Hypertelorism
– Downward slanting palpebral fissures
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Apert and
Crouzon
Wong, GB et al: Analysis of Fronto-orbital Advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen Syndromes.Plast. Reconstr. Surg. 105: 2314-2323, 2000.
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Apert and
Crouzon
• Airway concerns – Reduced nasopharyngeal dimensions and
choanal stenosis
– OSA – Cor pulmonale
• Polysomnography
• Treatment – Adenoidectomy
– Endotracheal intubation
– Tracheotomy
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Apert and
Crouzon
Picture From: Wong, GB et al: Analysis of Fronto-orbital Advancement for Apert, Crouzon, Pfeiffer, and Saethre-ChotzenSyndromes. Plast. Reconstr. Surg. 105, 2000.
Fronto-Orbital Advancement Surgery
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Apert and
Crouzon
Picture From: Chang, J: Reconstruction of the Hand in Apert Syndrome: A Simplified Approach. Plast. Reconstr. Surg. 109:465, 2002.
Syndactyly
reconstruction in Apert Syndrome
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Pierre RobinSequence
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PRS
• Triad of micrognathia, glossoptosis and cleftpalate
– First described by St. Hilaire in 1822
– Pierre Robin first recognized the association ofmicrognathia and glossoptosis in 1923
• Prevalence: 1 of every 8,500 newborns – Syndromic 80%
• Treacher Collins Syndrome
• Velocardiofacial Syndrome
• Fetal Alcohol Syndrome
– Nonsyndromic 20%
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PRS
MandibularDeficiency
Hypoplastic and
Retruded Mandible
(Micrognathia)
Tongue Remains
Retruded and High in
Oropharynx
(Glossoptosis)
Failure of Fusion of
Lateral Palatal Shelves
Cleft Palate
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PRS
Picture From: Gorlin et al: Syndromes of the Head and Neck . New York, Oxford University Press, 1990.
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PRS
Pictures From: Gorlin et al: Syndromes of the Head and Neck . New York, Oxford University Press, 1990.
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PRS
• Airway Obstruction
– Anatomic and Neuromuscular
Components• Micrognathia, Retruded Mandible
• Glossoptosis
• Impaired Genioglossus and Parapharyngeal
Muscles
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PRS
• Airway Management
– Temporizing Modalities
• Prone Positioning
• Nasopharyngeal Airway
– NG tube and gavage feeds
• Mandibular Traction Devices
• Tongue Lip Adhesion
– Tracheotomy
– Distraction Osteogenesis
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CHARGE
Association
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• C olobomas
• H eart Abnormalities
• A tresia Choanae
• Growth/Mental R etardation
• G enitourinary Anomalies
• E ar Abnormalities
CA
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• Proposed by Pagon et al in 1981
• Incidence unknown
• Associated with paternal age > 34
• Head and Neck anomalies:
CHARGE
- Coloboma
- Choanal Atresia
- External Ear Abnormalities
- Facial Nerve Palsy
- Laryngomalacia
- OSA
- GERD
- Mondini Malformation
- Semicircular Canal Hypoplasia
- Vocal Cord Paresis
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Coloboma
• Failure of fusion of
embryonic (choroidal)fissure – Optic nerve, inferior
nasal fundus, orinferior iris may beinvolved
• Redundant tissue ofupper or lower eyelidlacking skinappendages
CA
Picture from: Levin AV: Congenital Eye Abnormalities. Pediatr Clin North Am 50(1), 2003.
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Choanal Atresia
• Prevalence: 1/5000
to 1/8000
• Females/Males: 2/1
• Unilateral 65-75%
• 75% with Bilateralhave CHARGE, or
other syndromes
Picture from: Keller JL: Choanal Atresia, CHARGE association, and Congenital Nasal
Stenosis. Otolaryngol Clin North Am 33(6), 2000.
CHARGE
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• Neonates are obligate nasal breathers
• Mouth breathing is a learnedresponse, developed at 4-6 weeks
• Bilateral CA presents at birth with
respiratory distress and cyanosis,relieved with crying
• Unilateral CA usually presents later inlife with chronic nasal discharge
CA
Choanal Atresia
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• Diagnosis:
– 6 French catheter
– Nasal endoscopy
– Bell of Stethoscope
– Mirror
• Radiology
– CT (preferred method)
CA
Choanal Atresia
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• Treatment:
– Unilateral CA does not require immediate
correction
• May be delayed until starting school
– Bilateral CA requires immediate interventions:
• Oral Airway
• McGovern Nipple
• Intubation
• Tracheostomy
CA
Choanal Atresia
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• Surgical Correction:
– Transnasal
– Transpalatal
– Laser
– +/- Stenting – +/- Mitomycin-C Topical (0.3 mg/cc)
CHARGE
Choanal Atresia
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Bibliography
• Gorlin, RJ et al: Syndromes of the Head and Neck . New York, OxfordUniversity Press, 1990.
• Bluestone CD et al. Pediatric Otolaryngology . Philadelphia, Saunders, 2003.
• Chang, J: Reconstruction of the Hand in Apert Syndrome: A Simplified Approach. Plast. Reconstr. Surg. 109, 2002.
• Wong, GB et al: Analysis of Fronto-orbital Advancement for Apert, Crouzon,
Pfeiffer, and Saethre-Chotzen Syndromes. Plast. Reconstr. Surg. 105, 2000.• Acosta, HL et al: Vertical Mesenchymal Distraction and Bilateral Free Fibula
Transfer for Severe Treacher Collins Syndrome. Plastic & ReconstructiveSurgery , 113(4), 2004.
• Levin AV: Congenital Eye Abnormalities. Pediatr Clin North Am 50(1), 2003.
• Ceruti, S et al: Temporal Bone Anomalies in the Branchio-Oto-RenalSyndrome: Detailed ComputedTomographic and Magnetic Resonance
Imaging Findings. Otology & Neurotology 23, 2002.• Keller JL: Choanal Atresia, CHARGE association, and Congenital Nasal
Stenosis. Otolaryngol Clin North Am 33(6), 2000.
• Kanamori G: Otolaryngologic Manifestations of Down Syndrome. OtolaryngolClin North Am 33(6), 2000.Shprintzen RJ. Velocardiofacial Syndrome. Otolaryngol Clin North Am 33(6),2000.