What this deck covers
ENT Manifestations of Syndromes in ten clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.
Diagnoses and management options tested
Across the ten cases you are asked to choose between options such as: Eustachian tube dysfunction and midface hypoplasia, Congenital ossicular chain fixation, Congenital cholesteatoma, Goldenhar syndrome, Nager syndrome, Treacher Collins syndrome, Crouzon syndrome, Immediate surgical tongue-lip adhesion, Prone positioning and airway monitoring, Emergent tracheostomy, High-flow nasal cannula in supine position, Stickler syndrome, Kabuki syndrome, Van der Woude syndrome, 22q11.2 deletion syndrome, Coloboma of the eye, Preauricular pits, Usher syndrome, Waardenburg syndrome, Mobius syndrome, Hemifacial spasm, Branchio-oto-renal syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Norrie disease, Graves disease with sensorineural hearing loss.
Clinical pearls from this deck
- Down syndrome children get chronic OME in up to ~80% — midface hypoplasia makes the Eustachian tube shorter, narrower, and more horizontal; hypotonia weakens the tensor veli palatini that opens it; and immune differences add infections. The result is conductive hearing loss that impairs speech. Keep a low threshold for grommets and screen hearing every 6–12 months.
- Bilateral, SYMMETRIC facial involvement — downslanting palpebral fissures, malar hypoplasia, bilateral microtia/aural atresia — is Treacher Collins (mandibulofacial dysostosis, TCOF1, autosomal dominant). It gives conductive loss (bone-anchored hearing aids) and neonatal airway risk from mandibular hypoplasia; intelligence is typically normal. Goldenhar is unilateral/asymmetric; Nager adds limb defects; Crouzon has craniosynostosis/proptosis.
The ten worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.
More from this system: all ent decks and question sets · pediatric reference values.
