1 / 18

Review of Otolaryngology related Pediatric Syndromes

Review of Otolaryngology related Pediatric Syndromes. David E. Karas MD Connecticut Pediatric Otolaryngology Yale New Haven Children’s Hospital Yale School of Medicine. Disclosures. Speaker’s Bureau for Alcon. Syndromology. Major Significant functional or cosmetic impact

kay
Download Presentation

Review of Otolaryngology related Pediatric Syndromes

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Review of Otolaryngology related Pediatric Syndromes David E. Karas MD Connecticut Pediatric Otolaryngology Yale New Haven Children’s Hospital Yale School of Medicine

  2. Disclosures • Speaker’s Bureau for Alcon

  3. Syndromology • Major • Significant functional or cosmetic impact • Heart defect, abnormal brain formation, cleft lip/palate • Minor • No major functional or cosmetic impact

  4. Etiology • Environmental (Teratogenic) • Alcohol exposure • Chromosomal • Single gene • Multiple gene

  5. Patterns • Sequence • Multiple defects from a single malformation • Pierre Robin • Syndrome • All components are pathologically related • Trisomy 21 or Fetal Alcohol • Association • Occur together more frequently • VATER/VACTERL • CHARGE

  6. Branchio-Oto-Renal (Melnick-Fraser) • Branchial cleft sinuses • Hearing Loss • Sensorineural but may be mixed • Renal Dysplasia (12-20%) • Autosomal Dominant • 1 in 40,000 Births • Variable penetrance • Associatied with 8q • Facial Palsy/Lacrimal duct

  7. Treacher Collins (MandibulofacialDysostosis) • Autosomal Dominant • 1 in 50,000 births • 5q • Abnormal structures of 1st and 2ndBranchial arches, grooves and pouch. • Small, absent, or low set ears • Micrognathia • Cleft Palate (35%) • Normal Intelligence

  8. Nagers(AcrofacialDysostosis) • MalarHypoplasia • Down-slantingpalpebral fissures • Absence of lower eyelashes • Atretic External Auditory Canals • Conductive Hearing Loss • Normal cognition and development • Localization to 9q • Limb abnormalities, particularly • absent thumbs

  9. Velo-Cardio-Facial(Shprintzen) • High Arched/Cleft palate • Broad nasal root • Cognitive impairment • Cardiac anomalies • Velopharyngeal Insufficiency (VPI) • Immunologic deficiencies • 22q11 deficiency, Autosomal Dominant • Feeding difficulties • Hypocalcemia

  10. Down’s Syndrome • Trisomy 21 • Stenotic ear canals/Low set ears • COME/Eustachian tube dysfunction • Middle ear anomalies • Delayed Speech • Obstructive Sleep Apnea • Macroglossia • Narrowed subglottis/trachea • Cardiac defects

  11. Mucopolysaccharidoses • Lysosomal Storage Disease • 7 distinct types • Hurlers, Hunters, Sanfillipo • Morquio, Maroteaux-Lamy • Coarse facial features • AIRWAY ISSUES!!!!! • Obstructive Sleep Apnea • Enzyme Replacement for • types I,II, and VI

  12. CHARGE Syndrome • Coloboma • Heart Anomalies • AtresiaeChonae • Retardation • Genital Anomalies • Ear Anomalies • ~60% defect of CHD7 gene(chromosome 8)

  13. VATER(VACTERL) Association • Vertebral Anomalies • Anal • Cardiac defects • Tracheo-esophageal Fistula • Renal/Radial anomalies • Limb defects • No specific genetic pattern or inheritance • Incidence 16/100,000

  14. Stickler’s Syndrome • MidfaceHypoplasia • Cleft palate (Pierre Robin) • Depressed Nasal Bridge • Hearing Loss (15%) • Dental Anomalies • Mitral Valve Prolapse • Genetic Sequencing is available • Joint dysplasia/ hyperextensibilty

  15. Kartagener’s Syndrome • Immotile Cilia • SitusInversus • Sinusitis • Bronchitis/bronchiectasis • Otitis Media • Autosomal Recessive • Genetically heterogenous

  16. Craniosynostosis • Crouzon’s • Midfacehypoplasia, coronal suture synostosis • Apert’s • Bicoronalsynostosis,midfacehypoplasia, orbital hypertelorism, polydactyly • Saethre-Chotzen • Bilateral coronal synostosis , variable midfacehypoplasia, low set hairline , cleft palate • Pfeiffer • Multiple types with synostosis • and most with limb abnormalities

  17. Syndromes • More prevalent than you think • Look for abnormalities minor malformations may indicate that major ones may also exist • More than one family member may be affected • Identification should not be underestimated • Better care • Better counseling • Better Surveillance

More Related