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Table 1: Reported clinical fi ndings in Table 1: Contd...
oculo-auriculo-vertebral spectrum patients and their Clinical features Frequency (%)
frequencies
Absence of the tympanic tensor muscle
Clinical features Frequency (%) [18,26]
Inner ear 27–36
Facial abnormalities [4,20] 76 Hypoplastic inner ear
Unilateral [20,23] 70–85 Agenesis of the inner ear canal
Bilateral [4,16] 10–50 Altered cochlear morphology
Facial asymmetry [15,24,25] 65–85 Altered semicircular canal
Unilateral facial hypoplasia [3,4,9,11,16] 83 Absence of the cochlear aqueduct
Hypoplasia of mandible/condyle/maxillary/malar 50–64 Absent/abnormally coursing facial nerve canal
bone [7,15,23] Duplicated inner ear canal
Cleft lip/palate [4,7,9,15,16,24,25] 5–56 Displaced endolymphatic duct
Lateral facial cleft [16] 29–40 Conductive and sensorineural hearing 50–100
Lateral cleft like extension of corner of the mouth [2] defi cit [3,15,16,23]
Macrostomia [7,12,24] Temporal bone anomalies [15]
High arched palate [7,9] Poorly pneumatized mastoid antrum
Gingival hypertrophy [12] Lengthened mastoid antrum
Delayed tooth development/misaligned/ Enlarged cartilaginous portion of the eustachian
supernumerary teeth [4,12] tube lumen and absence of the cartilaginous
Enamel and dentin malformations [12] lateral lamina of the eustachian tube
Hypoplastic/bifi d tongue [4,7,24] Cranial abnormalities [15,21] 8–85
Agenesis of coronid process/palatine bane [7] Cranial asymmetry [15] 85
Deviated nasal septum/choanal atresia [4,9] Microcephaly [15,16] 8–43
Facial muscle hypoplasia [12] Skull defects [15] 47
Hypoplasia/aplasia of parotid glan [12] Holoporencephaly/anencephaly/platybasia [15]
Congenital salivary fi stulae of accessory Hypoplasia of petrous bone/ethmoid bone [15]
salivary glands [2] Neurological abnormalities [18,20,27] 12–47
Upslanting palpebral fi ssure/telecanthus Diffuse cerebral hypoplasia [27] 12
Ocular abnormalities [16,25] 25–94 Dilated lateral cerebral ventricles (asymptomatic 12–42
Epibulbar/ocular dermoid [14,15,25] 33.3–78 hydrocephalus) [15,27]
Unilateral [14] 53 Corpus callosum dysgenesis [27] 12
Limbal dermoid/lipodermoid [14,15] 47–53 Frontal hypodensities [27] 12
Unilateral 28 Mental retardation [3,15,20] 23–82
Bilateral 19 Intracranial dermoid/calcifi cations [15] 30
Coloboma of upper eyelid/iris/choroidea/ 24–60 Encephalocele [15] 13
retina [14,15,24] Facial nerve paralysis [2,3,20,24] 12
Bilateral [14] 3 Asymmetric lateral ventricles [15]
Anopthalmos/micropthalmos [15,16,24,25] 10–53 Hidrocephalus due to aqueduct of sylvius
Strabismus/nystagmus [4,24] stenosis [24]
Duane retraction syndrome [14,24] Corpus callosum lipoma [24]
Decreased corneal sensation [4,14,16] Hypoplastic/absence of septum pellucidum [15]
Cataract and iris abnormalities [4,15,16] Hypothalamic hamartoma [24]
Neuroparalytic keratitis Open myelomeningocele
Dacryostenosis [24] Arnold-Chiari malformation
Proptosis [16] Frontal lobe dysplasia
Auricular abnormalities [20,23,25,26] 82–100 Calcifi ed anterior falx cerebri seizures
External ear [20,26] 82–100 Cardiac abnormalities [2,9,17,18-20,24] 5–58
Preauricular appendages and pits [19,25,26] 53–90 Conotruncal/outlet defects [2,19,24] 38.5–45
Bilateral [14] 30 Fallot’s tetralogy [15,24] 15–50
Ear abnormalities Intraventricular communication with pulmonary 8
Microtia [25,26] 50–100 atresia [24]
Bilateral [26] 18–50 Transposition of great vessels [2]
Anotia [25] 16.60 Double inlet of the left ventricle
Atresia of outer ear canal Septal defects [2,19,24] 23–32
Stenosis of outer ear canal Interatrial communication ostium secundum
Middle ear [18,26] 67–75 Interventricular communication
Incomplete development of the tympanic cavity Atrioventricular septal defect
Opacifi ed middle ear Others
Agenesis of the middle ear Patent ductus arterious [19] 4
Hypoplasic/agenesis of the tympanic cleft Pulmonary artery stenosis [19] 4
Hypoplastic/displaced ossicular chain Cor triatriatum [24]
Widened or decreased tympanic cavity Dextrocardia
Contd... Contd...
Plast Aesthet Res || Vol 1 || Issue 3 || Dec 2014 111