Ari DeRowe, M.D. Pediatric Otolaryngology Dana Children’s Hospital Tel-Aviv Medical Center

1. PEDIATRIC CRANIO-FACIAL ANOMALIES Ari DeRowe, M.D. Pediatric Otolaryngology Dana Children’s Hospital Tel-Aviv Medical Center

3. Malformation Deformation Disruption Sequence Syndrome Association Definitions

4. 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

5. 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

6. 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

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

8. Pierre Robin Sequence

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

10. Sequence versus Syndrome

11. Apert Syndrome

12. Apert Syndrome 15.5 per million of live births Bicoronal synostosis: 100% Complex syndactyly: 100% Cleft palate: 30% Deafness: 30% Acne vulgaris Downward slanting lateral canthii Upper lid ptosis Other CNS abnormalitites (Hydrocephalus 10%) Multiple suture Craniostenosis

13. CROUZON’S SYNDROME • Incidence 1:25,000 • 33% sporadic • Midface deficiency • Shallow orbits (pseudo-proptosis) • Normal IQ and limbs • Hearing problems • Multisutural.

14. 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

15. Choanal Atresia

16. Management Issues • Team approach • Otolaryngology issues • upper airway obstruction • hearing Loss • speech Disorders

17. Upper Airway Obstruction • Neonatal nasal obstruction • Neonatal oropharyngeal obstruction • Obstructive apnea • Airway maintenance during surgery

18. 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

20. Nasopharyngeal Teratoma in newborn

21. 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

22. 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

23. Pediatric OSAS: continuum • Primary Snoring • UARS = Upper Airway Resistance Syndrome • OSA • Sleep Disordered Breathing = SDB

24. Progressive OSA in infant

25. Obstructive Sleep Apnea Syndrome • OSAS is a syndrome of disordered breathing characterized by a combination of intermittent partial and/or complete airway obstruction occurring during sleep, leading to hypoventilation (hypoxemia and hypercapnia) and sleep disturbance. • Breathing while awake appears to be entirely normal, in most instances • prevalence 2% • RDI > 5 ? Duration >3 months?

26. Etiology • adenotonsillar hypertrophy • craniofacial syndromes • Crouzon, Treacher-Collins, Pierre Robin • maxillary hypoplasia, septal deviation, micro or retrognathia, choanal stenosis or atresia, macroglossia • Down syndrome • MPS • Iatrogenic

27. Pediatric OSAS - complications • decreased REM = poor quality sleep • psychological outcome • behavioral disturbances • hyperactivity • aggression • depression • hypersomnolence • learning difficulties • CVS • growth and development • enuresis

28. 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

29. Method of Intubation

30. Method of Intubation (cont.)

31. Method of Intubation (cont.)

32. 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

33. 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

34. Down syndrome Velocardiofacial syndrome Pierre Robin sequence Goldenhar syndrome Treacher-Collins syndrome Apert and Crouzon syndromes CHARGE association Common Syndromes

35. 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

36. Airway Concerns • Midface hypoplasia • OSA in up to 50% • Adenotonsillectomy often insufficient • Subglottic narrowing, smaller trachea • Atlantoaxial instability in up to 20%

37. 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

38. Velocardiofacial Syndrome (VCFS) • Recognized in 1978 • Autosomal dominant • Deletion of chromosome 22 • Congenital heart disease, hypernasal speech, cleft palate, learning disabilities, & unusual facies

39. VCFS (cont.) • Basicranial angulation • Causes long face, puffy eyelids, retruded mandible, increased pharyngeal depth

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

41. 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

42. 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?)

43. 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

44. Pierre Robin Sequence • Triad of palatal cleft, micrognathia, and glossoptosis • 1923, credit to French stomatologist • Incidence 1 in 8500

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

46. 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

47. Mechanisms of Obstruction (PRS)

48. Hearing Concerns (PRS) • Chronic otitis media with effusion common • Palatal abnormality (ETD) • Require multiple tympanostomy tubes

49. 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

50. 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