Syndromes & Eponyms

Question 1

Polyostotic fibrous dysplasia, cafe au lait spots, precocious puberty

Answer 1

McCune-Albright syndrome

Question 2

Gustatory sweating

Answer 2

Frey syndrome

Question 3

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

Answer 3

Avellis syndrome

Question 4

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

Answer 4

Basal cell nevoid syndrome

Question 5

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

Answer 5

Beckwith syndrome

Question 6

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

Answer 6

Behçet syndrome

Question 7

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

Answer 7

Brachio-oto-renal syndrome

Question 8

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

Answer 8

Brun syndrome

Question 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

Answer 9

Captomelic syndrome

Question 10

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

Answer 10

Cavernous sinus syndrome

Question 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

Answer 11

Charco-Marie-Tooth disease

Question 12

Albinism, photophobia, nystagmus, hepatosplenomegaly, lymphoma

Answer 12

Chédiak-Higashi Syndrome

Question 13

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

Answer 13

Cogan syndrome

Question 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

Answer 14

Cowden syndrome

Question 15

Abnormal right subclavian artery with compression of the esophagus

Answer 15

Dysphagia lusoria

Question 16

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

Answer 16

Friedreich disease

Question 17

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

Answer 17

Gardner syndrome

Question 18

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

Answer 18

Gradenigo syndrome

Question 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

Answer 19

Grisel syndrome

Question 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

Answer 20

Hunt syndrome

Question 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

Answer 21

Hunter syndrome

Question 22

Situs inversus, chronic sinusitis, bronchiectasis

Answer 22

Kartagener syndrome

Question 23

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

Answer 23

Lermoyez syndrome (variant of Ménière’s disease

Question 24

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

Answer 24

Maffucci syndrome

Question 25

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

Answer 25

Nager syndrome

Question 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

Answer 26

Oral-Facial-Digital Syndrome I

Question 27

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

Answer 27

Osler-Weber-Rendu Disease (HHT)

Question 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

Answer 28

Otopalatodigital syndrome

Question 29

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

Answer 29

Peutz-Jeghers syndrome

Question 30

Glossoptosis, micrognathia, U-shaped cleft palate

Answer 30

Pierre Robin sequence

Question 31

Dysphagia due to degeneration of the esophageal muscle, tongue papillae atrophy, microcystic hypo chromic anemia, achlorhydria, glossitis, pharyngitis, esophagitis, chelitis

Answer 31

Plummer-Vinson syndrome

Question 32

Neuralgia of the glossopharyngeal nerve, usually precipitated by movement of the tongue or throat

Answer 32

Reichert syndrome

Question 33

Aspirin allergy, nasal polyposis, asthma

Answer 33

Samter triad

Question 34

Postural hypotension, impotence, sphincter dysfunction, anhidrosis with progression to panautonomic failure, atypical parkinsonism, cerebellar dysfunction, laryngeal stridor, intermittent diplophonia, slow speech rate

Answer 34

Shy-Drager syndrome

Question 35

Neuralgia of the lower half of the face, nasal congestion, rhinorrhea associated with lesions of the sphenopalatine ganglion

Answer 35

Sluder neuralgia

Question 36

Intermittent vertigo, occipital headache, blurred vision, diplopia, dysarthria, pain in the upper extremity

Answer 36

Subclavian steal syndrome

Question 37

Paralysis of the upper eyelid, orbital pain, photophobia, paralyis of III, IV, V1, VI

Answer 37

Superior Orbital Fissure Syndrome

Question 38

Unilateral paralysis of the larynx and tongue coupled with tongue atrophy; soft palate and cricothyroid muscles are intact

Answer 38

Tapia syndrome

Question 39

Vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal defect, limb dysplasia

Answer 39

VACTERL

Question 40

Mixed hearing loss, fused cervical vertebrae, bilateral abducens palsy

Answer 40

Cervico-Oculo-Acoustic syndrome (Wildervanck syndrome)