Alexander dysplasia

The least severe type of inner ear dysplasia. The cochlear duct and basal turn of the cochlea are usually the only structures affected, resulting in a high-frequency hearing loss.

Alport syndrome

Syndrome that consists of haematuria with progressive renal failure (usually starting in the mid-teens), progressive sensorineural hearing loss and retinal flecks. There is a defect in type IV collagen and the symmetrical high frequency sensorineural hearing loss is primarily due to a loss of hair cells. Eighty percent inherited in an X-linked recessive pattern, but there is also autosomal dominant and autosomal recessive inheritance.

Apert syndrome

Crouzon’s with syndactyly. A rare autosomal dominant craniofacial disorder.

Arnold’s nerve

The auricular branch of the vagus. It arises from the jugular ganglion, passes through the temporal bone via the mastoid canaliculus and exits the skull through the tympanomastoid fissure. It supplies the skin of the posterior external canal and posterior auricle.

Barre-Lieou syndrome

Consisting of sharp pain beginning in the neck and radiating up to the occiput and then forward. It is most common in patients between 40 and 60 years of age. Pain is usually on one side and aggravated by certain movements of the head. Sensory disturbances, including vertigo, tinnitus and cloudy vision, may accompany the pain. The cause is not known. It is also known as cervical migraine.

Barrett oesophagitis

Replacement of the squamous epithelium of the distal oesophagus by columnar epithelium, similar to that which lines the stomach. The most common cause is chronic gastroesophageal reflux, and 2% to 5% of cases may progress to adenocarcinoma.

Bartholin duct

The major duct of the sublingual gland. It is formed by the confluence of several of the more anterior small sublingual ducts (ducts of Rivinus) and empties into either the submandibular duct on directly into the floor of mouth at the plica sublingualis.

Battle sign

Ecchymosis over the mastoid process. It is indicative of a temporal bone or posterior fossa fracture.

Behçet syndrome

Classically, a symptom complex consisting of oral ulcers, genital ulcers and iritis. The oral lesions can be extensive and may be the initial manifestation of the disease. It is seen most frequently in young adults in Japan and in Mediterranean countries. The cause is unknown; both viral and immune-complex aetiologies have been proposed.

Bezold abscess

A subperiosteal abscess of the temporal bone, most commonly found in the region just anterior to the mastoid tip. The cause is usually a mastoiditis with extravasation through the inner bony table into the digastric fossa.

Bing–Siebenmann dysplasia

Complete membranous labyrinthine dysplasia.

Boerhaave syndrome

Spontaneous rupture of the oesophagus, usually due to severe vomiting.

Bogorad syndrome

Profuse lacrimation during eating. It is usually the result of faulty regeneration of autonomic nerves after facial trauma, with parasympathetic fibres originally intended for the salivary glands going to the lacrimal gland instead. It is also known as syndrome of crocodile tears.

Bonnet syndrome

A combination of tic douloureux and Horner syndrome.

Bowen disease

(i.e. cutaneous SCC in situ). A variant of squamous cell cancer characterized by a full-thickness dysplasia of the epidermis. It is by definition non-invasive, but it can progress to invasive carcinoma. It appears as a red, scaly patch in sun-exposed areas and it can be confused with psoriasis.

Brown sign

Blanching of a red or blue mass in the tympanic membrane when air pressure is applied by pneumo-otoscopy. It is indicative of a glomus tympanicum tumour.

Brown vertical retraction syndrome

A congenital or acquired pseudo paresis of the inferior oblique muscle, whereby the eye cannot be elevated beyond mid-gaze. The congenital form is thought to be due to a congenitally shortened superior oblique tendon, whereas the acquired syndrome may be due to either recent trauma (e.g. orbital fracture with entrapment) or previous trauma with formation of adhesions.

Broyle’s ligament

Anterior commissure ligament of the larynx.

Brunner abscess

Abscess of the posterior floor of the mouth.

Burckhardt dermatitis

An eruption of the external ear. It consists of red papules and vesicles that appear after exposure to sunlight. The rash usually resolves spontaneously.

Carhart notch

Raymond Thomas Carhart in 1950. One of the pioneers of audiology and also first to use the term ‘air-bone gap’.

An artefactual loss of bone conduction sensitivity that is greatest at 2 kHz. Most commonly associated with otosclerosis but can occur with otitis media with effusion (OME) and ossicular chain fixation. It is thought to be due to the fact that when bone conduction is tested, a proportion of the sound energy causes the ossicles to vibrate and resonate. The bone conduction threshold improves on correction of the conductive defect.

Churg–Strauss syndrome

Now known as eosinophilic granulomatosis with polyangiitis (EGPA), is an autoimmune condition that causes vasculitis of small and medium-sized blood vessels in persons with a history of airway allergic hypersensitivity. It usually manifests in three stages: allergic, eosinophilic and vasculitic.

Chvostek sign

A facial twitch obtained by tapping the facial nerve in front of the tragus. It can be indicative of hypocalcaemia.

Cogan syndrome

Typically, a sudden onset of interstitial keratitis and vestibuloauditory symptoms, usually in young persons but sometimes in the elderly. Patients report blurring of vision, orbital pain, vertigo and tinnitus. The symptoms may progress quickly to blindness and deafness, followed by resolution and later relapse. Treatment currently consists of steroids.

Cowden syndrome

A rare autosomal dominant inherited disorder whose primary ears, nose and throat manifestation are hamartomas of the skin and mucous membranes. Patients with this disease also may have thyroid goitres or adenomas, gastrointestinal polyps and fibrocystic breast disease. They are at increased risk for malignancies in all of these areas, particularly breast cancer. Increased risk of follicular thyroid carcinoma.

Crouzon syndrome

Named after Octave Crouzon, a French physician.

Craniofacial dysostosis affecting the skull and the first branchial arch (precursor of the maxilla and mandible). This autosomal dominant syndrome is caused by a mutation in the fibroblast growth factor receptor. Characterized by hypertelorism, exophthalmos, a hypoplastic mandible and downward-sloping palpebral fissures.

Curtius syndrome

Hypertrophy of an entire side of the body or of a single part. When it occurs in the face, it is known as congenital hemifacial hypertrophy.

Dandy syndrome

Oscillopsia caused by bilateral loss of vestibular function, usually as the result of bilateral labyrinthectomy.

Darier disease (keratosis follicularis)

Multiple erythematous, crusted papules distributed over the face and body. These may be particularly troublesome in the external ear canal. White, ragged papules also may be present in the oral cavity.

Dejean syndrome

Characterized by exophthalmos, diplopia, superior maxillary pain and numbness along the route of the trigeminal nerve. It is classically caused by a nasal tumour that traverses the pterygopalatine fossa and invades the floor of the orbit.

De Quervain’s thyroiditis

Fritz de Quervain, 1904, Swiss surgeon from Basel. He also suggested iodised salt for endemic goitre.

Subacute granulomatous thyroiditis. Most common cause for painful thyroid. Initial hyperthyroidism followed sometimes by transient hypothyroidism and then return to euthyroid state.

DiGeorge syndrome

Now known as 22q11.2 deletion syndrome.

CATCH-22 (= cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcaemia resulting from 22q11.2 deletions). An autosomal dominant defective development of the third and fourth pharyngeal pouches, most frequently manifesting as partial or total agenesis of the thymus (and therefore immune deficiency due to lack of T cells) and parathyroids. Abnormal development of the heart, aortic arch, mandible, external ear and philtrum also may be present. The most common presenting sign is hypocalcaemia in the neonatal period.

Eagle syndrome

Elongation of the styloid process or ossification of the stylohyoid ligament, causing recurrent nonspecific throat discomfort, foreign body sensation, dysphagia or facial pain. Surgical shortening of the styloid process can be effective.

Epstein pearls

Multiple small white nodules on the palate and oral mucosa of newborns. Histologically, they are composed of concentric layers of keratin. No treatment is needed because they disappear spontaneously within a few months.

Escherich sign

Protrusion of the lips elicited by percussion of the inner surface of the lips or tongue. It is seen in hypocalcaemia.

Fordyce disease

A developmental anomaly characterized by enlarged, ectopic sebaceous glands (Fordyce spots) in the oral mucosa. These glands appear as numerous small yellowish white granules.

Frey syndrome

Lucia Frey, 1923, Polish neurologist. Died in the Holocaust.

Also known as auriculotemporal syndrome. Following parotid surgery, parasympathetic fibres from the auriculotemporal nerve grow into the severed axonal sheaths of sympathetic nerve fibres which innervate the sweat glands. Acetylcholine is the common neurotransmitter. Thus, when a stimulus for salivary flow occurs, sweating of the skin overlying the parotid bed also occurs.

Furstenberg test

Enlargement of a nasal encephalocele on compression of the internal jugular veins.

Garcin syndrome

Consists of motor and sensory deficits involving cranial nerves III through XI. Garcin syndrome can be caused by basilar skull fracture with haemorrhage, basal meningitis, cavernous sinus thrombosis or tumours of the parapharyngeal space. It is also known as hemipolyneuropathy.

Gardner syndrome

A subtype of familial adenomatous polyposis. Characterized first usually by multiple osteomas that develop in the skull and facial bones, including the mandible. It is an autosomal-dominant disease; other symptoms include multiple epidermoid cysts of the skin, papillary thyroid cancer and polyposis of the colon and rectum. There is a tendency for these polyps to become malignant.

Goldenhar syndrome

Named after Maurice Goldenhar, a Belgian-American ophthalmologist.

Also known as oculo-auriculo-vertebral (OAV) syndrome, it is characterized by underdevelopment of the mandible, external ear, orbit, facial muscles and hemivertebrae of the vertebral column. It is a form of hemifacial microsomia.

Gorlin syndrome

Nevoid basal cell carcinoma syndrome (NBCCS).

Autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal cell carcinoma with multiple keratocytic odontogenic tumours.

Gradenigo syndrome

Count Giuseppe Gradenigo, an Italian otolaryngologist.

Otorrhoea, pain in the distribution of the ophthalmic branch of the trigeminal nerve and abducens nerve palsy. Originally caused by an extradural abscess involving the petrous bone, this syndrome is now more commonly caused by a tumour at the petrous apex, such as a cholesteatoma, meningioma or other tumour. It is also known as petrous apex syndrome.

Griesinger sign

Pain, redness and swelling of the tip of the mastoid, indicative of thrombophlebitis of the sigmoid sinus with involvement of the mastoid emissary veins.

Grisel’s syndrome