03-26-10 Congenital Disorders of the Face and Ear _Tobey

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					03-26-10 Congenital Disorders of the Face and Ear (Tobey) – Outline

    Infant assessment scale
    Intervals: 1, 5, 10 minutes
    Score: 0-10
    Criteria: Appearance, Pulse, Grimace, Activity, Respirations (2 points each)

      Embryology
         o Development of the lip and palate
             begins in the 5th week
         o Finished by the 12th week
         o Formation of the maxillary prominences
             + lateral/medial prominences  growth
             toward the midline and fusion 
             intermaxillary segment  3 parts 
             philtrum, portion of the maxilla,
             primary plate  palatine shelves 
             midline fusion  secondary palate +
             fusion with the primary plate
   Pierre Robin Sequence
        o Series of malformations
                 Micrognathia
                 Tongue that falls back into the throat
                 +/- U-shaped cleft palate
                 Respiratory distress
        o Epidemiology
                 Isolated birth defect +/- trisomy 18 or Stickler
        o Etiology
                 Failure of the mandible to grow properly  tongue position in the back
                   of the pharynx  palatal shelves do not fuse correctly
        o Prognosis and Treatment
                 Complications
                        Severe respiratory distress  intervention  intubation,
                        Choking
                        Feeding issues
                        Otitis media
                        Loss of hearing
                 Careful monitoring
                 Surgical intervention may be needed, but the jaw often “catches up”
   Cleft Lip and Palate
        o Most common craniofacial congenital malformation
                 Interruption or failure of the formation of the mesenchymal layer 
                   fusion failure
                 Cleft lip: failure of the maxiallary prominence + medial nasal prominence
                        May present unilaterally or bilaterally
                        Varied presentation: “nick” in the lip or complete separation
                 Cleft palate: failure of the palantine shelves
                        May present uni-/bilaterally
                        Varied presentation: submucosal to primary + secondary clefts
        o Epidemiology
                 M>F for lip + palate
                 F>M for palate only
                 Lip + Palate: Native Americans > Asian > Caucasion > African American
        o Etiology
                 Usually isolate, may occur w/another condition
                        Van der Woude syndrome
                        Siderius X-linked mental retardation
                        Stickler’s syndrome
                        Loeys-Deitz syndrome
                        Patau syndrome (trisomy 13)
                        Trisomy 18
      Multifactorial +/- environmental factors
      Genetics: auto-dom, auto-rec, x-linked
o Prognosis & Treatment
      Feeding issues is the main concern  sucking seal cannot be properly
              Cleft palate results in more feeding issues that cleft lip only; the
                most difficulty is associated with cleft lip + palate
      Complications
              Feeding, poor weight gain, poor dentition
              Frequent otitis media, hearing loss (1/3 of patients)
              Developmental delays
              Speech issues
      Feeding
              Upright position with special nipples
              Breastfeeding possible
              Small + frequent feedings + more burping during each feeding
              Close monitoring of weight, growth
              Supplementation (nutrition)

          Types
               A: incomplete unilateral lip
               B: unilateral lip, alveolus, palate
               C: bilateral lip, alveolus, palate
               D: isolated cleft
          Treatment
               Surgery  closure + plastics
                             o    Fix defect
                             o    Aesthetic improvement
                             o    Restored function
                             o    Performed between 2-12 months (debated)
                                       Repair < 2 years = optimal hearing and speech
                                       Later surgeries needed to correct skeletal issues 
                                          after the facial growth completes in adolescence
                        Orthodontics  pre-surgery or realignment
                        Multidisciplinary approach
   Treacher Collins Syndrome
       o Mandibulofacial Dysostosis
                Under-developed facial bones
                Sunken appearance of the middle face
                Micrognathia
       o Etiology
                TCOF 1 gene mutation (Chr. 5)
                50/50: auto-dom/spontaneous
       o Prognosis and Treatment
                Presentation
                        Zygomatic hypoplasia, orbital bone deficiency, maxillary
                          hypoplasia, micrognatia, downward-slanting palpebral fissures,
                          cleft palate
                        Lower eyelid hypoplasia, absent lower lashes, pre-auricular hair,
                          ear deformities, external auditory canal stenosis
                        Bite malocclusion
                        TMJ dysfunction
                        Average to lower intelligence
                Complications
                        Respiratory support and monitoring due to breathing issues
                        Feeding problems
                        Hearing loss
                        Visual deficits
                Treatment
                        RESPIRATORY
                        FEEDING SUPPORT
                        Surgical reconstruction
                        Full head CT BEFORE 6 months
   Hemifacial Microsomia
       o Second most common facial birth defect
                M>F
       o Underdeveloped lower face, unilateral
                Usually involves the ears, mouth, mandible
                Can be bilateral
       o Etiology
                Possible vascular problem between the 4th-8th week of fetal development
                Possibly genetic, possibly chemical
       o Prognosis and Treatment
                Complications
                        Breathing
                        Skin tags, hearing loss, motor weakness
                Treatment
                        Respiratory support
                        Surgical correction
   Fetal Alcohol Syndrome
       o Epidemiology
                Due to prenatal exposure to alcohol
                Children of chronic alcoholics
                Native Americans > African Americans > Native Alaskans
                High rate in low socio-economic classes
       o Etiology
                Alcohol = teratogen
                Disruption of nerve cell function and development  altered growth and
                   survival + free radical damage  biochemical pathway altered + gene
                   expression altered
                Negative effects during the entire pregnancy, not simply the 1 st trimester
       o Diagnosis
             o Prognosis and Treatment
                   Presentation
                           Microcephaly
                           Intrauterine growth
                           Short palpebral fissures
                           Thin vermillion border
                           Long smooth philtrum
                           Short nose
                           Hypoplastic midface
                           Altered palmar creases,
                             small distal phalanges
                           Ventricular septal defects, atrial septal defects, renal defects
                   Complications
                           Birth defects, FAS, still birth, learning disabilities, asymptomatic
                           Developmental problems: motor delays, language issues, low IQ,
                             hyperactivity, ADD, judgment issues, social problems, visual-
                             spatial issues
                           Long-term sequalae: dental misalignment, myopia, estation tube
                             dysfunction, neurodevelopmental delays, hyperactivity/ADD, poor
                             judgment, difficulty socializing
                   Treatment
                           Prevention
                           Treat all resulting medical issues
                           Social work referrals
                           Developmental, learning support

         Embryology
              o Auricle forms during the 6th week
              o 1st/2nd branchial arches  6 hillocks of His  auricle
                      1st 3 hillocks  tragus, helical crus, helix
                      2nd 3 hillocks  antihelix, scapha, lobule
         Ear Pits and Tags
              o Preauricular tags, pits, fissures, sinuses
              o Look for other underlying congenital problems
                      Branchiootorenal syndrome (BOR) - Preauricular sinus
                      Beckwith-Wiedemann syndrome - Preauricular sinus with asymmetric
                      Mandibulofacial dysostosis - Auricular pits/fistulas
                      Oculoauriculovertebral dysplasia - Preauricular tags
                      Chromosome arm 11q duplication syndrome - Preauricular tags or pits
                 Chromosome arm 4p deletion syndrome - Preauricular dimples or skin
               Chromosome arm 5p deletion syndrome - Preauricular tags
       o Congenital malformations of the preauricular soft tissue
               Pits: incomplete hillock fusion
                       Located near the front of the ear
                       Mark the opening of a sinus tract
                       Lined with squamous epithelium
                       May lead to cellulitis, abscess
               Sinuses: ectoderm folding
               Tags: extra hillocks
                       Epithelial mounds near the front of the ear, near the tragus
                       NO bony, cartilaginous, cystic components
                       NO communication with the ear canal, middle ear
       o Treatment
               Mostly asymptomatic
               Antibiotics for pain, swelling, erythema; possible draining for abscesses
               Cosmetic surgery
   Anotia and Microtia
       o M>F
       o Unilateral or bilateral
       o Associated with canal atresia, conductive hearing loss, craniofacial syndromes
       o Inner ear spared
       o Anotia
               Missing external ear
       o Microtia
               Hypoplasia of external ear
               Degree related to canal stenosis and hearing loss
       o Treatment
               Referral to otologist, plastics  middle ear surgery to correct hearing loss
   Deformities and Splinting
       o Selective Hypoplasia
               One part of the ear fails to fully form
               Loss of ear height
               Cup or lop ear
               Treated with splinting at birth
       o Prominent Ear
               Prominent, but well-formed; cosmetic problem only
               Splinting or surgical correction
       o Stahl’s Ear
               Rare  rim of the ear is flat and the upper portion deformed 
                  “Elf/Vulcan ear”
               Molding splints or surgery

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