The Temporal Bone: Syndromes Associated With Ear Anomalies

10.1055/b-0034-87910

The Temporal Bone: Syndromes Associated With Ear Anomalies

A large number of syndromes are associated with ear anomalies, with different importance. The list is too long to repeat here. An overview is provided by Lachman and Taybi. The most important syndromes are listed in Table 4.57 .

**Table 4.57 Syndromes with ear anomalies**
Diagnosis	Findings	Comments
Charge syndrome Fig. 4.180a, b	Fused semicircular canals and vestibule.
Apert syndrome	Large vestibule, short and deformed lateral semicircular canal (SCC).	Upward angulation of petrous apex with eustachian tube dysfunction.
Crouzon syndrome	Large vestibule; short and deformed lateral SCC; dehis-cent jugular bulb.	Upward angulation of petrous apex with eustachian tube dysfunction.
Treacher Collins syndrome Fig. 4.181a, b	Hypoplastic/aplastic external ear canal and tympanic cavity.	Hypoplasia of mandibular neck, concave horizontal.
Hemifacial microsomia
Goldenhar syndrome (oculoauriculovertebral dysplasia)	External auditory canal atresia/dysplasia.	Deformed auricle.
Branchiootorenal syndrome	Hypoplastic apical cochlear turn, large vestibular aqueduct, deformed SCCs.
Osteopetrosis	Narrow internal auditory canal, narrow facial nerve canal.	Sclerotic skull base.
Osteogenesis imperfecta	Lucencies around inner ear.	Resembles severe otospongiosis.
Achondroplasia Fig. 4.182	Dehiscent jugular bulb.

**Fig. 4.180a, b Charge syndrome** is a fusion of the vestibule and the semicircular canals (arrow).

**Fig. 4.181a, b Treacher Collins syndrome.** (a) A 5-year-old boy with bilateral atresia of the external ear canal. (b) 3D reconstruction shows an interrupted zygomatic arch, a hypoplastic mandible, and absence of the orifice of the external ear canal.

**Fig. 4.182 Achondroplasia** in a 1-year-old girl. Severe venous bleeding occurred during placement of a tympanostomy tube. CT demonstrates absence of the bony septum between jugular bulb and middle ear cavity (arrow). The tympanostomy tube, which is not visible on this image, was placed at a later point in time.

Conductive Hearing Loss

Conductive hearing loss can have a multitude of causes. Blockage of the external ear canal is visible for the otolanryngologist, although the medial extension of lesions can be obscured. Exostoses are often multiple, and osteomas are often single.

Many middle ear anomalies cause conductive hearing loss. Fluid in the middle ear can be serous, glue, pus, or blood. Ossicular chain disruption can be traumatic or iatrogenic. Erosion of the ossicles can be caused by cholesteatoma but also by chronic otitis media. Otosclerosis can lead to fixation of the foot plate of the stapes or impingement of a bony spur of the fissula ante fenestram on the ossicular chain. Middle ear masses can cause immobilization of the ossicles.

**Table 4.58 Conductive hearing loss**
Diagnosis	Findings	Comments
External ear canal
External ear canal obstruction	Cerumen, foreign body, exostose, osteoma.	Exostoses often in swimmers/surfers. Exostoses multiple, osteoma isolated.
Middle ear
Acute otitis media	Opacified middle ear.	Imaging rarely performed.
Glue ear	Opacified middle ear; few air bubbles.	Imaging rarely performed, retracted eardrum, tympanostomy tubes.
Hematotympanum	Opacified middle ear	Posttraumatic, resolves after several weeks. History.
Ossicular disruption	(see Table 4.63 , trauma)
Tympanosclerosis Fig. 4.183a, b	Calcified foci in tympanic cavity/tympanic membrane.	In chronic otitis media, sclerotic mastoid.
Chronic otitis media	Sclerotic mastoid, (partly) opacified mastoid cells/tympanic cavity.	Ossicular chain erosion may be present.
Cholesteatoma Fig. 4.184	Ossicular chain disruption, especially lenticular process and stapedial superstructure. Mass may be evident but can be obscured by surrounding fluid/granulomatous tissue.	Note labyrinth fistula, erosion of tegmen. Diffusion-weighted MRI can be helpful.
Cholesterol granuloma		(see Table 4.61 , blue eardrum)
Otosclerosis Fig. 4.185	Thickened stapedial foot plate; lytic lesion in front of oval window (fissula ante fenestram; lucencies around inner ear.	Productive bony spurs can encroach on ossicles.
Paraganglioma		(see Table 4.61 , blue eardrum)
Tumors	Middle ear mass.	Rare.