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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.