Pediatric Syndromes of Head and Neck

1
Pediatric Syndromes of Head and Neck

• Murtaza Z. Kharodawala, MD
• Matthew Ryan, MD
• Grand Rounds, Nov. 17, 2004
• UTMB Dept. of Otolaryngology

2
The Sydromal Child

• More than 3,000 syndromes classified
• Optimal growth, development, and learning
  requires early recognition and intervention
• Team Approach
• Parents
• Pediatrician
• Otolaryngologist
• Cardiologist
• Nephrologist
• Geneticist
• Speech Therapist
• Teachers
• Others

3
The Sydromal Child

• History
• Parental factors (age)
• Consanguinity
• Abortions
• Teratogen exposure
• Medical Pedigree

4
The Sydromal Child

• Physical Exam
• Major and Minor Anomalies
• Airway
• Skull
• Ears
• Facial skeleton
• Comparison to Family Members
• Reference Material

5

• Down Syndrome
• Velocardiofacial Syndrome
• Branchio-Otorenal Syndrome
• Treacher-Collins Syndrome
• Crouzon and Apert Syndrome
• Pierre Robin Sequence
• CHARGE Association

6
Down Syndrome
7
Down Syndrome

• Described by John Landon Down in 1866
• Etiology nondisjuction mutation resulting in
  Trisomy 21
• Prevalence 1700
• Most common chromosomal anomaly
• Associated with Maternal age gt 35

8
Down Syndrome

• Facial Characteristics
• Macroglossia
• Micrognathia
• Midface hypoplasia
• Flat occiput
• Flat nasal bridge
• Epicanthal folds
• Up-slanting palpebral fissures
• Progressive enlargement of lips

9
Down Syndrome
Picture From Kanamori G Otolaryngologic
Manifestations of Down Syndrome. Otolaryngol Clin
North Am 33(6), 2000.
10
Down Syndrome

• 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

11
Down Syndrome

• Obstructive Sleep Apnea
• Prevalence 54-100 in DS patients
• Combination of anatomic and functional mechanisms
• Midface hypoplasia, macroglossia, etc
• Hypotonia of pharyngeal muscles

12
Down Syndrome

• Obstructive Sleep Apnea
• Management
• Polysomnography to confirm
• Medical interventions
• CPAP
• Weight Loss
• Medications to stimulate respiratory drive

13
Down Syndrome

• Obstructive Sleep Apnea
• Management
• Surgical
• Adenoidectomy and Tonsillectomy
• Controversial
• UPPP
• Partial tongue resection
• Tracheotomy

14
Down Syndrome

• 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

15
Down Syndrome

• 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

16
Velocardiofacial Syndrome
17
VCFS

• First described by Shprintzen et al. in 1978
• Not uncommon
• Prevalence 1 in every 4,000 newborns
• 8 of all cleft palate patients
• Autosomal Dominant inheritance
• Hemizygous microdeletion shared with DiGeorge
  Sequence at 22q11.2 locus
• Features
• Cleft palate
• Congenital heart disease
• Characteristic facies
• Hypernasal speech
• Learning disablities

18
VCFS

• 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

19
VCFS

• 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

20
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.
21
VCFS

• Nasal Findings
• Prominent nasal root
• Large tip
• Pinched, hypoplastic alar base

Pictures From Shprintzen RJ Velocardiofacial
Syndrome. Otolaryngol Clin North Am 33(6), 2000.
22
VCFS

• Ear findings
• Small auricles (48)
• CHL secondary to serous effusions and ETD (75)
• PE tubes effective
• SNHL (8)
• Amplification devices

23
VCFS

• 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)

24
VCFS

• MRA
• Tortuous and medially deviated internal carotid
  artery

Pictures From Shprintzen RJ. Velocardiofacial
Syndrome. Otolaryngol Clin North Am 33(6), 2000.
25
VCFS

• Growth and mental retardation
• Flat affect and poor social interaction with
  impulsive behavior
• Renal anomalies in 35
• T cell dysfuction in 10 with hypocalcemia

26
Branchio-Otorenal Syndrome
27
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

28
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)

29
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 tympanic cavity

30
BORS
Picture From Gorlin et al Syndromes of the Head
and Neck. New York, Oxford University Press,
1990
31
BORS

• Inner ear anomalies (rare)
• Dilated vestibule and/or endolymphatic 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 ComputedTomographic and Magnetic
Resonance Imaging Findings. Otology Neurotology
23, 2002.
32
BORS

• Hearing loss (75-95)
• CHL (30)
• SNHL (20)
• MHL (50)

33
BORS

• Renal anomalies (12-20)
• Likely underreported when a disease process not
  involved
• Renal agenesis or hypoplasia
• Structural anomalies of renal pelvis or ureters

34
BORS

• Diagnosis and Treatment
• History and Physical Examination
• Audiogram, CT temporal bones
• CT neck
• Renal Ultrasound, IVP

35
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

36
Treacher Collins Syndrome
37
TCS

• First described by Thomson and Toynbee in 1846-7
• Later, essential components described by Treacher
  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

38
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

39
TCS

• Picture From Cummings, CW Otolaryngology Head
  and Neck Surgery. St Louis, Mosby, 1998

40
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

41
TCS

• Otologic concerns
• Malpositioned auricles
• Malformed pinna
• EAC atresia
• Ossicular abnormalities
• Conductive hearing loss is common
• Hearing aids are effective
• Normal intelligence

42
TCS
Picture From Acosta, HL et al Vertical
Mesenchymal Distraction and Bilateral Free Fibula
Transfer for Severe Treacher Collins Syndrome.
Plastic Reconstructive Surgery, 113(4), 2004.

43
TCS
Picture From Acosta, HL et al Vertical
Mesenchymal Distraction and Bilateral Free Fibula
Transfer for Severe Treacher Collins Syndrome.
Plastic Reconstructive Surgery, 113(4), 2004.

44
Apert and Crouzon Syndromes
45
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

46
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

47
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

48
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.
49
Apert and Crouzon

• Airway concerns
• Reduced nasopharyngeal dimensions and choanal
  stenosis
• OSA
• Cor pulmonale
• Polysomnography
• Treatment
• Adenoidectomy
• Endotracheal intubation
• Tracheotomy

50
Apert and Crouzon

• Otologic concerns
• CHL resulting from ETD
• Congenital fixation of stapes footplate in Apert
  syndrome
• Treatment
• Ventilation tubes
• Stapedectomy or OCR
• Fronto-Orbital advancement
• Brain growth and expansion of cranial vault,
  orbital depth
• Orthodontics
• Maxillary teeth abnormalities
• Crossbite

51
Apert and Crouzon
Fronto-Orbital Advancement Surgery
Picture From Wong, GB et al Analysis of
Fronto-orbital Advancement for Apert, Crouzon,
Pfeiffer, and Saethre-Chotzen Syndromes. Plast.
Reconstr. Surg. 105, 2000.
52
Apert and Crouzon
Syndactyly reconstruction in Apert Syndrome
Picture From Chang, J Reconstruction of the
Hand in Apert Syndrome A Simplified Approach.
Plast. Reconstr. Surg. 109 465, 2002.
53
Pierre Robin Sequence
54
PRS

• Triad of micrognathia, glossoptosis and cleft
  palate
• First described by St. Hilaire in 1822
• Pierre Robin first recognized the association of
  micrognathia and glossoptosis in 1923
• Prevalence 1 of every 8,500 newborns
• Syndromic 80
• Treacher Collins Syndrome
• Velocardiofacial Syndrome
• Fetal Alcohol Syndrome
• Nonsyndromic 20

55
PRS

• Mandibular Deficiency

Cleft Palate
Hypoplastic and Retruded Mandible (Micrognathia)
Failure of Fusion of Lateral Palatal Shelves
Tongue Remains Retruded and High in Oropharynx
(Glossoptosis)
56
PRS
Picture From Gorlin et al Syndromes of the Head
and Neck. New York, Oxford University Press,
1990.
57
PRS
Picture From Gorlin et al Syndromes of the Head
and Neck. New York, Oxford University Press,
1990.
58
PRS
Pictures From Gorlin et al Syndromes of the
Head and Neck. New York, Oxford University
Press, 1990.
59
PRS

• Airway Obstruction
• Anatomic and Neuromuscular Components
• Micrognathia, Retruded Mandible
• Glossoptosis
• Impaired Genioglossus and Parapharyngeal Muscles

60
PRS

• Airway Management
• Temporizing Modalities
• Prone Positioning
• Nasopharyngeal Airway
• NG tube and gavage feeds
• Mandibular Traction Devices
• Tongue Lip Adhesion
• Tracheotomy
• Distraction Osteogenesis

61
PRS

• Otologic Concerns
• 80 have bilateral CHL
• Eustachian Tube Dysfunction
• Serous Otitis Media
• Placement of Ventilation Tubes is Effective

62
CHARGE Association
63
CA

• Colobomas
• Heart Abnormalities
• Atresia Choanae
• Growth/Mental Retardation
• Genitourinary Anomalies
• Ear Abnormalities

64
CHARGE

• Proposed by Pagon et al in 1981
• Incidence unknown
• Associated with paternal age gt 34
• Head and Neck anomalies

• Coloboma
• Choanal Atresia
• External Ear Abnormalities
• Facial Nerve Palsy
• Laryngomalacia

• OSA
• GERD
• Mondini Malformation
• Semicircular Canal Hypoplasia
• Vocal Cord Paresis

65
Coloboma
CA

• Failure of fusion of embryonic (choroidal)
  fissure
• Optic nerve, inferior nasal fundus, or inferior
  iris may be involved
• Redundant tissue of upper or lower eyelid lacking
  skin appendages

Picture from Levin AV Congenital Eye
Abnormalities. Pediatr Clin North Am 50(1), 2003.
66
Choanal Atresia
CHARGE

• Prevalence 1/5000 to 1/8000
• Females/Males 2/1
• Unilateral 65-75
• 75 with Bilateral have CHARGE, or other
  syndromes

Picture from Keller JL Choanal Atresia,
CHARGE association, and Congenital Nasal
Stenosis. Otolaryngol Clin North Am 33(6), 2000.
67
Choanal Atresia
CA

• Neonates are obligate nasal breathers
• Mouth breathing is a learned response, developed
  at 4-6 weeks
• Bilateral CA presents at birth with respiratory
  distress and cyanosis, relieved with crying
• Unilateral CA usually presents later in life with
  chronic nasal discharge

68
Choanal Atresia
CA

• Diagnosis
• 6 French catheter
• Nasal endoscopy
• Bell of Stethoscope
• Mirror
• Radiology
• CT (preferred method)

69
Choanal Atresia
CA

• 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

70
Choanal Atresia
CHARGE

• Surgical Correction
• Transnasal
• Transpalatal
• Laser
• /- Stenting
• /- Mitomycin-C Topical (0.3 mg/cc)

71
Bibliography

• Gorlin, RJ et al Syndromes of the Head and Neck.
  New York, Oxford University 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
  Reconstructive Surgery, 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-Renal Syndrome 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. Otolaryngol Clin North Am 33(6),
  2000.Shprintzen RJ. Velocardiofacial Syndrome.
  Otolaryngol Clin North Am 33(6), 2000.
• Weintraub AS Neonatal Care of Infants with Head
  and Neck Anomalies. Otolaryngol Clin North Am
  33(6), 2000.