The Syndromal Child

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The Syndromal Child

• Michael Underbrink, MD
• Ronald Deskin, MD

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Definitions

• Malformation
• Deformation
• Disruption

• Sequence
• Syndrome
• Association

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Malformation

• a morphologic defect of an organ, part of an
  organ, or larger area of the body resulting from
  an intrinsically abnormal developmental process
• e.g., cleft lip

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Deformation

• abnormal form or position of a body part caused
  by nondisruptive mechanical forces
• Usually late in fetal development
• Mechanical, malformational or functional
• e.g., Potter

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Disruption

• defect of an organ, part of an organ, or a
  larger area of the body due to interference with
  a normal process
• Sporadic and rare
• e.g., anmiotic bands leading to amputations

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Definitions
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Sequence

• multiple defects that occur as a result of a
  single presumed structural anomaly
• e.g., Pierre Robin sequence

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Syndrome

• pattern of multiple anomalies believed to be
  pathogenetically related and not representing a
  sequence
• Pathogenesis less understood
• e.g., Treacher-Collins syndrome

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Sequence versus Syndrome
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Association

• nonrandom occurrence of a group of anomalies in
  multiple individuals, not known to be a sequence
  or syndrome
• Alert clinicians to look for related problems
• e.g., CHARGE and VATER

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Approach to Diagnosis

• Over 3,000 known syndromes
• History
• medical pedigree
• maternal and paternal age
• consanguinity
• previous abortions
• teratogens

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Approach to Diagnosis (cont.)

• Physical examination
• compare other siblings/family member photos
• major and minor anomalies
• isolated minor anomalies (15)
• more than 3 minor anomalies (90 with major)
• mental retardation associated with multiple
  anomalies
• Reference books are helpful

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Management Issues

• Team approach
• Otolaryngology issues
• upper airway obstruction
• hearing Loss
• speech Disorders

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Upper Airway Obstruction

• Neonatal nasal obstruction
• Neonatal oropharyngeal obstruction
• Obstructive apnea
• Airway maintenance during surgery

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Neonatal Nasal Airway Obstruction

• Obligate nose breathers until 3 months
• Problems when mouths closed or feeding
• e.g.., bilateral choanal/midface hypoplasia
• treatment with oral airway

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Neonatal Oropharyngeal Airway Obstruction

• Posterior displacement of tongue
• Neonates with retro/micrognathia
• Treatment
• nursing in prone position
• nasopharyngeal airway
• tracheotomy if life threatening
• Usually relieved by 6 months of age

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Child with Obstructive Apnea

• Variety of causes
• maxillary hypoplasia, narrow nasopharynx
• retrognathia, micrognathia
• overcorrected VPI
• Operative procedures
• Adenotonsillectomy, laser reduction of tongue
  base, UPPP, mandible advancement, laser reduction
  of supraglottis, tracheotomy

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Airway Problems with Surgery

• Endotracheal intubation or tracheotomy
• Indications for tracheotomy
• ET intubation impossible, difficult extubation
• Facilitate surgery and postoperative care
• Inability to intubate nasally b/c of PPP
• Tracheotomy less common today
• Perform with airway control

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Intubation Method for Mandibular Hypoplasia

• Handler and Keon
• e.g.., Treacher-Collins, Pierre Robin, and
  Goldenhar patients
• Problems include
• Small mandible
• Glossoptosis
• Trismus
• Prominent maxilla
• Cleft palate

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Method of Intubation
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Method of Intubation (cont.)
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Method of Intubation (cont.)
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Hearing Loss

• Congenital
• Usually conductive
• Hemifacial microsomia, microtia
• Bilateral microtia surgery when possible
• Normal hearing ear CROS hearing aids
• Acquired
• Usually ETD require ventilation tubes
• Tympanoplasty delayed until adolescence

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Speech Disorders

• Hypernasality
• velopharyngeal insufficiency
• often corrected with speech therapy alone
• may need palatopharyngoplasty if persists
• Hyponasality
• nasal obstruction
• improves with correction of obstruction
• Hoarseness
• 20 of children with VPI
• vocal cord nodules from compensatory maneuvers
• may develop after endotracheal intubation

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Common Syndromes

• Down syndrome
• Velocardiofacial syndrome
• Pierre Robin sequence
• Goldenhar syndrome

• Treacher-Collins syndrome
• Apert and Crouzon syndromes
• CHARGE association

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Down Syndrome (Trisomy 21)

• Most common
• 1 in 700 births
• Maternal age 35 carries increased risk
• 1866, described by John Landon Down
• Airway and hearing problems

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Airway Concerns

• Midface hypoplasia
• OSA in up to 50
• Adenotonsillectomy often insufficient
• Subglottic narrowing, smaller trachea
• Atlantoaxial instability in up to 20

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Hearing Concerns

• Congenital and Acquired, overall high incidence
• Conductive hearing loss
• more common
• small pinna, stenotic EAC, eustachian tube
  dysfunction, ossicular fixation
• Sensorineural hearing loss
• less common
• ossification of basal spiral tract, temporal bone
  anomalies
• Management ventilation tubes, frequent exams,
  and hearing aids as necessary

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Velocardiofacial Syndrome (VCFS)

• Recognized in 1978
• Autosomal dominant
• Deletion of chromosome 22
• Congenital heart disease, hypernasal speech,
  cleft palate, learning disabilities, unusual
  facies

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VCFS (cont.)

• Basicranial angulation
• Causes long face, puffy eyelids, retruded
  mandible, increased pharyngeal depth

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VCFS (cont.)

• Vascular anomalies are very common
• Anomalies of head and neck vessels most common
  (almost 100)
• Caution in planning VPI surgery

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Speech Concerns in VCFS

• Palatal anomalies common (75)
• 80 occult, 20 overt
• 44 with submucous cleft and bifid uvula
• Increased pharyngeal depth
• Severe hypernasality
• Treatment Speech therapy and Surgery

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Airway concerns in VCFS

• Common in the infant multiple sources
• Due to generalized hypotonia (especially
  pharyngeal), retrognathia, laryngeal webs, and
  reactive airway disease
• Endoscopic assessment critical
• Tracheotomy rare
• Retrognathia, cleft palate, and UAO (Pierre
  Robin?)

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Hearing Concerns in VCFS

• Minor ear anomalies
• COME common
• CHL in 75 (MEE)
• Due to ETD (palate) frequent immunopathy
• Sensorineural HL in 15 - unilateral, mild

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Pierre Robin Sequence

• Triad of palatal cleft, micrognathia, and
  glossoptosis
• 1923, credit to French stomatologist
• Incidence 1 in 8500

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PRS (cont.)

• Mandibular deficiency
• Etiology can be multiple (positional, genetic,
  neurologic, connective tissue d/o)
• Nonsyndromic (80) or syndromic (20)

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Airway Concerns (PRS)

• Sher described 4 mechanisms for cause of
  obstruction
• Management with nasopharyngeal airway initially
  (up to 8 weeks)
• Tracheotomy may be necessary if other treatments
  fail

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Mechanisms of Obstruction (PRS)
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Hearing Concerns (PRS)

• Chronic otitis media with effusion common
• Palatal abnormality (ETD)
• Require multiple tympanostomy tubes

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Treacher-Collins Syndrome

• Autosomal dominant
• 1 in 25,000 50,000 births
• Bilateral abnormalities of 1st and 2nd branchial
  arches
• Hypoplasia of maxilla, zygoma, and mandible
• Downward slanting eyes with colobomas of lower
  eyelid and absence of eyelashes

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Airway Concerns (T-C)

• Respiration easily compromised, especially if
  choanal atresia/stenosis present
• Airway management extremely difficult
• OSA may develop responds to tonsillectomy
  and/or mandibular advance

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Hearing Concerns (T-C)

• Auricles are malformed or absent
• Varying degrees of middle ear hypoplasia and
  ossicular malformation
• Bilateral CHL 50 to 70dB
• Surgery difficult at best, chance for success is
  poor
• Hearing aids usually necessary

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Apert and Crouzon Syndromes

• 1906, Apert described a child with
  acrocephalosyndactyly
• 1912, Crouzon described mother daughter with
  craniofacial dysostosis
• Both are autosomal dominant
• Incidence is 15 to 16 per 1,000,000 births

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Apert and Crouzon

• Craniosynostosis
• Hypertelorism
• Exopthalmos
• Maxillary hypoplasia

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Airway concerns (AC)

• Compromise of nasopharyngeal and oropharyngeal
  airway by cranial synostosis
• Serious risk for respiratory distress, OSA, cor
  pulmonale and sudden death
• Treatment ET intubation, tracheotomy
• Sleep study for OSA may need tracheotomy if
  severe
• Cervical spine anomalies can occur

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Hearing Concerns (AC)

• Conductive hearing loss
• Due to ETD from decreased NP space
• Tympanostomy tubes often necessary

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Goldenhar syndrome (Oculoauriculovertebral)

• Unilateral craniofacial malformation
• 1st and 2nd arches
• 1 in 5600 births
• Sporadic (most)
• Vascular anomaly during fetal life?

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Goldenhar Syndrome (cont.)

• Facial asymmetry, unilateral ear deformities, and
  vertebral malformations
• Upper eyelid colobomas
• Auricular malformations, EAC stenosis, ossicular
  abnormalities
• Facial weakness in 10 to 20

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Hearing Concerns (GS)

• Greater than 50 of patients
• Usually conductive (ossicular malformation or
  absence, EAC atresia)
• Sensorineural occasionally

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C.H.A.R.G.E.

• Coloboma
• Heart defect (tetralogy of Fallot,ASD,VSD)
• Atretic choanae
• Retarded growth
• Genitourinary anomalies
• Ear malformations
• must have 4 out of 6 categories

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Airway Concerns

• Choanal Atresia bilateral more common in CHARGE
  association
• Bilateral immediate airway support with oral
  airway, McGovern nipple, or intubation
• If definitive surgery delayed b/c of other
  anomalies, tracheotomy necessary

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Hearing Concerns

• External ear anomalies (vary widely)
• Middle ear anomalies (absence of stapes, abnormal
  incus, absence of oval window)
• Inner ear anomalies (Mondini dysplasia of pars
  inferior, absence of pars superior, and short
  cochlea)
• Deafness is of mixed type (wedge audio)