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Pediatric syndromes hn-slides.

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Pediatric syndromes hn-slides.

  1. 1. Pediatric SyndromesPediatric Syndromes of Head and Neckof Head and Neck www.indiandentalacademy.com
  2. 2. • 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 The Sydromal Child www.indiandentalacademy.com
  3. 3. The Sydromal Child • History – Parental factors (age) – Consanguinity – Abortions – Teratogen exposure – Medical Pedigree www.indiandentalacademy.com
  4. 4. • Physical Exam – Major and Minor Anomalies • Airway • Skull • Ears • Facial skeleton – Comparison to Family Members – Reference Material The Sydromal Child www.indiandentalacademy.com
  5. 5. Down Syndrome Velocardiofacial Syndrome Branchio-Otorenal Syndrome Treacher-Collins Syndrome Crouzon and Apert Syndrome Pierre Robin Sequence CHARGE Association www.indiandentalacademy.com
  6. 6. DownDown SyndromeSyndrome www.indiandentalacademy.com
  7. 7. • 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 www.indiandentalacademy.com
  8. 8. • Facial Characteristics – Macroglossia – Micrognathia – Midface hypoplasia – Flat occiput – Flat nasal bridge – Epicanthal folds – Up-slanting palpebral fissures – Progressive enlargement of lips Down Syndrome www.indiandentalacademy.com
  9. 9. Down Syndrome Picture From: Kanamori G: Otolaryngologic Manifestations of Down Syndrome. Otolaryngol Clin North Am 33(6), 2000. www.indiandentalacademy.com
  10. 10. • 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 www.indiandentalacademy.com
  11. 11. • 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 www.indiandentalacademy.com
  12. 12. • Obstructive Sleep Apnea – Management: • Polysomnography to confirm • Medical interventions: – CPAP – Weight Loss – Medications to stimulate respiratory drive Down Syndrome www.indiandentalacademy.com
  13. 13. • Obstructive Sleep Apnea – Management: • Surgical – Adenoidectomy and Tonsillectomy » Controversial – UPPP – Partial tongue resection – Tracheotomy Down Syndrome www.indiandentalacademy.com
  14. 14. • 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 www.indiandentalacademy.com
  15. 15. • 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 www.indiandentalacademy.com
  16. 16. VelocardiofacialVelocardiofacial SyndromeSyndrome www.indiandentalacademy.com
  17. 17. • 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 VCFS www.indiandentalacademy.com
  18. 18. • 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 www.indiandentalacademy.com
  19. 19. • 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 www.indiandentalacademy.com
  20. 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. www.indiandentalacademy.com
  21. 21. 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. www.indiandentalacademy.com
  22. 22. • Ear findings – Small auricles (48%) – CHL secondary to serous effusions and ETD (75%) • PE tubes effective – SNHL (8%) • Amplification devices VCFS www.indiandentalacademy.com
  23. 23. • 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 www.indiandentalacademy.com
  24. 24. VCFS MRA: Tortuous and medially deviated internal carotid artery Pictures From: Shprintzen RJ. Velocardiofacial Syndrome. Otolaryngol Clin North Am 33(6), 2000. www.indiandentalacademy.com
  25. 25. • 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 www.indiandentalacademy.com
  26. 26. Branchio-OtorenalBranchio-Otorenal SyndromeSyndrome www.indiandentalacademy.com
  27. 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 www.indiandentalacademy.com
  28. 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%) www.indiandentalacademy.com
  29. 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 www.indiandentalacademy.com
  30. 30. BORS Picture From: Gorlin et al: Syndromes of the Head and Neck. New York, Oxford University Press, 1990 www.indiandentalacademy.com
  31. 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.www.indiandentalacademy.com
  32. 32. BORS • Hearing loss (75-95%) – CHL (30%) – SNHL (20%) – MHL (50%) www.indiandentalacademy.com
  33. 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 www.indiandentalacademy.com
  34. 34. BORS • Diagnosis and Treatment – History and Physical Examination – Audiogram, CT temporal bones – CT neck – Renal Ultrasound, IVP www.indiandentalacademy.com
  35. 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 www.indiandentalacademy.com
  36. 36. TreacherTreacher CollinsCollins SyndromeSyndrome www.indiandentalacademy.com
  37. 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 www.indiandentalacademy.com
  38. 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 www.indiandentalacademy.com
  39. 39. TCS Picture From: Cummings, CW: Otolaryngology: Head and Neck Surgery. St Louis, Mosby, 1998 www.indiandentalacademy.com
  40. 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 www.indiandentalacademy.com
  41. 41. TCS • Otologic concerns – Malpositioned auricles – Malformed pinna – EAC atresia – Ossicular abnormalities – Conductive hearing loss is common • Hearing aids are effective – Normal intelligence www.indiandentalacademy.com
  42. 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.www.indiandentalacademy.com
  43. 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.www.indiandentalacademy.com
  44. 44. Apert andApert and CrouzonCrouzon SyndromesSyndromes www.indiandentalacademy.com
  45. 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 www.indiandentalacademy.com
  46. 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 www.indiandentalacademy.com
  47. 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 www.indiandentalacademy.com
  48. 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.www.indiandentalacademy.com
  49. 49. Apert and Crouzon • Airway concerns – Reduced nasopharyngeal dimensions and choanal stenosis – OSA – Cor pulmonale • Polysomnography • Treatment – Adenoidectomy – Endotracheal intubation – Tracheotomy www.indiandentalacademy.com
  50. 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 www.indiandentalacademy.com
  51. 51. Apert and Crouzon Picture From: Wong, GB et al: Analysis of Fronto-orbital Advancement for Apert, Crouzon, Pfeiffer, and Saethre- Chotzen Syndromes. Plast. Reconstr. Surg. 105, 2000. Fronto-Orbital Advancement Surgery www.indiandentalacademy.com
  52. 52. 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 www.indiandentalacademy.com
  53. 53. Pierre RobinPierre Robin SequenceSequence www.indiandentalacademy.com
  54. 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% www.indiandentalacademy.com
  55. 55. PRS Mandibular Deficiency Hypoplastic and Retruded Mandible (Micrognathia) Tongue Remains Retruded and High in Oropharynx (Glossoptosis) Failure of Fusion of Lateral Palatal Shelves Cleft Palate www.indiandentalacademy.com
  56. 56. PRS Picture From: Gorlin et al: Syndromes of the Head and Neck. New York, Oxford University Press, 1990. www.indiandentalacademy.com
  57. 57. PRS Picture From: Gorlin et al: Syndromes of the Head and Neck. New York, Oxford University Press, 1990. www.indiandentalacademy.com
  58. 58. PRS Pictures From: Gorlin et al: Syndromes of the Head and Neck. New York, Oxford University Press, 1990. www.indiandentalacademy.com
  59. 59. PRS • Airway Obstruction – Anatomic and Neuromuscular Components • Micrognathia, Retruded Mandible • Glossoptosis • Impaired Genioglossus and Parapharyngeal Muscles www.indiandentalacademy.com
  60. 60. PRS • Airway Management – Temporizing Modalities • Prone Positioning • Nasopharyngeal Airway – NG tube and gavage feeds • Mandibular Traction Devices • Tongue Lip Adhesion – Tracheotomy – Distraction Osteogenesis www.indiandentalacademy.com
  61. 61. PRS • Otologic Concerns – 80% have bilateral CHL – Eustachian Tube Dysfunction – Serous Otitis Media – Placement of Ventilation Tubes is Effective www.indiandentalacademy.com
  62. 62. CHARGECHARGE AssociationAssociation www.indiandentalacademy.com
  63. 63. • Colobomas • Heart Abnormalities • Atresia Choanae • Growth/Mental Retardation • Genitourinary Anomalies • Ear Abnormalities CA www.indiandentalacademy.com
  64. 64. • Proposed by Pagon et al in 1981 • Incidence unknown • Associated with paternal age > 34 • Head and Neck anomalies: CHARGECHARGE - ColobomaColoboma - Choanal AtresiaChoanal Atresia - External Ear AbnormalitiesExternal Ear Abnormalities - Facial Nerve PalsyFacial Nerve Palsy - LaryngomalaciaLaryngomalacia - OSAOSA - GERDGERD - Mondini MalformationMondini Malformation - Semicircular Canal HypoplasiaSemicircular Canal Hypoplasia - Vocal Cord ParesisVocal Cord Paresis www.indiandentalacademy.com
  65. 65. Coloboma • 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 CA Picture from: Levin AV: Congenital Eye Abnormalities. Pediatr Clin North Am 50(1), 2003. www.indiandentalacademy.com
  66. 66. Choanal Atresia • 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. CHARGE www.indiandentalacademy.com
  67. 67. • 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 CA Choanal Atresia www.indiandentalacademy.com
  68. 68. • Diagnosis: – 6 French catheter – Nasal endoscopy – Bell of Stethoscope – Mirror • Radiology – CT (preferred method) CA Choanal Atresia www.indiandentalacademy.com
  69. 69. • 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 www.indiandentalacademy.com
  70. 70. • Surgical Correction: – Transnasal – Transpalatal – Laser – +/- Stenting – +/- Mitomycin-C Topical (0.3 mg/cc) CHARGE Choanal Atresia www.indiandentalacademy.com
  71. 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.www.indiandentalacademy.com

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