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Flashcards in Syndromes & Eponyms Deck (40)
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1

Polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty

McCune-Albright syndrome

2

Gustatory sweating

Frey syndrome

3

Unilateral paralysis of the larynx and velum with contralateral loss of pain & temperature below the larynx

Avellis syndrome

4

Multiple nevoid basal cell epitheliomas of the skin, cysts of the jaw, frontal bossing, dorsal scoliosis; associated with medulloblastoma

Basal cell nevoid syndrome

5

Macroglossia, omphalocele, hypoglycemia, pancreatic hyperplasia, noncystic renal hyperplasia, cytomegaly of the fetal adrenal cortex

Beckwith syndrome

6

Indolent ulcers of the mucous membrane & skin, stomatitis, anogenital ulcers, iritis, conjunctivitis

Behçet syndrome

7

Conductive hearing loss, cup-shaped pinna with bilateral preauricular sinuses, bilateral branchial cleft fistulas, renal dysplasia

Brachio-oto-renal syndrome

8

Vertigo, headache, vomiting, visual disturbances due to an obstruction of CSF flow during positional changes of the head

Brun syndrome

9

Dwarfism, prominent forehead, flat facies, cleft palate, mandibular hypoplasia, tracheobronchial malacia, shorted & flattened cochlea, bowing of the tibia & femur with malformation of other bones

Captomelic syndrome

10

Orbital pain with venous congestion of the retina, lids, & conjunctiva, eye proptosis with exophthalmos, photophobia, involvement of CN II, III, IV, V

Cavernous sinus syndrome

11

Chronic degeneration of the peripheral nerves & roots, distal muscle atrophy in feet, legs, & hands, loss of deep tendon reflexes, cerebellar ataxia features, optic atrophy

Charco-Marie-Tooth disease

12

Albinism, photophobia, nystagmus, hepatosplenomegaly, lymphoma

Chédiak-Higashi Syndrome

13

Nonsyphilitic interstitial keratitis with rapid visual loss, episodic severe vertigo accompanied by tinnitus, spontaneous nystagmus, ataxia, progressive SNHL

Cogan syndrome

14

Adenoid facies, hypoplasia of the mandible and maxilla, high-arched palate, hypoplasia of the soft palate & uvula, microstomia, papillomatosis of the lips & pharynx, pectus excavatum, CNS abnormalities

Cowden syndrome

15

Abnormal right subclavian artery with compression of the esophagus

Dysphagia lusoria

16

Facial hemihypertrophy involving the eyelids, cheeks, lips, facial bones, tongue, ear, & tonsils

Friedreich disease

17

Autosomal dominant disease of fibroma, osteoma of the skull, mandible, maxilla, & long bones with epidermoid inclusion cysts and colon polyps

Gardner syndrome

18

Suppurative otitis, retro-orbital pain, abducens paralysis with diplopia

Gradenigo syndrome

19

Spontaneous torticollis, flexed & rotated head with limited range of motion, flat face, displacement of the spine of the axis to the same side as the head is turned

Grisel syndrome

20

Cerebellar tumor, intention tremor beginning in one extremity and then involving the rest of the body, facial paralysis, otalgia, aural herpes, juvenile paralyis agitans

Hunt syndrome

21

Prominent supraorbital ridges, large flattneed nose, low-set ears, progressive corneal opacities, patulous lips & prognathism, short neck, abdominal protuberance, hirsutism, short status, TMJ arthritis, mental retardation

Hunter syndrome

22

Situs inversus, chronic sinusitis, bronchiectasis

Kartagener syndrome

23

Deafness & tinnitus followed by a vertiginous attack that relieves the tinnitus and improves the hearing

Lermoyez syndrome (variant of Ménière's disease

24

Multiple cutaneous hemangiomas with dyschondroplasia and enchondroma, may cause sharp bowing of the extremities

Maffucci syndrome

25

Acrofacial dysotosis, preaxial upper limb defects, microtia, aural atresia, ossicular malformation

Nager syndrome

26

Multiple hyperplastic frenula, cleft tongue, dystopia canthorum, hypoplasia of the nasal alar cartilage, median cleft of the upper lip, digital malformation, hamartoma between the lobes of the divided tongue

Oral-Facial-Digital Syndrome I

27

Punctate hemangiomas in the mucous membranes of the lips, tongue, mouth, GI tract, etc.

Osler-Weber-Rendu Disease (HHT)

28

Skeletal dysplasia, CHL, cleft palate, mild dwarfism, mental retardation, broad nasal root, hypertelorism, small mandible, winged scapulae, malar flattening, downward obliquity of the eye

Otopalatodigital syndrome

29

Pigmentation of the lips and oral mucosa, benign polyps of the GI tract

Peutz-Jeghers syndrome

30

Glossoptosis, micrognathia, U-shaped cleft palate

Pierre Robin sequence