Complete Labyrinthine Aplasia: Clinical and Radiologic Findings with Review of the Literature

Özgen, Burçe; Oğuz, Kader K.; Ataş, Ahmet; Sennaroḡlu, Levent

doi:10.3174/ajnr.a1426

Cited by 45 publications

(33 citation statements)

References 19 publications

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“…labyrinthine aplasia, also known as Michel aplasia (because it was first described by Michel in 1863), is the most severe form of inner ear deformity; it is caused by developmental arrest of the otic placode during the 3rd gestational week (7)(8)(9)12,14,15). The condition is extremely rare, accounting for only 1% of all inner ear malformations (14).…”

Section: Complete Labyrinthine Aplasia-completementioning

confidence: 99%

CT and MR Imaging of the Inner Ear and Brain in Children with Congenital Sensorineural Hearing Loss

Joshi¹,

Navlekar²,

Kishore³

et al. 2012

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153

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Imaging plays an important role in the evaluation of congenital sensorineural hearing loss. In children who are candidates for cochlear implantation surgery, it provides vital preoperative information about the inner ear, the vestibulocochlear nerve, and the brain. High-resolution computed tomography (CT) and magnetic resonance (MR) imaging provide excellent delineation of the intricate anatomy of the inner ear: CT depicts the minute details of osseous structures, and MR imaging allows visualization of the fluid-filled spaces and the vestibulocochlear nerve. Together, these complementary modalities can aid decision making about the best management strategy by facilitating the identification and characterization of inner ear malformations and any associated neurologic abnormalities. It is important that the radiologist be familiar with the key imaging features when interpreting CT and MR images obtained in this patient group. A broad spectrum of inner ear malformations have been described and linked to developmental insults at different stages of embryogenesis, and various systems have been proposed for classifying them. In this article, these malformations are described by using classification systems used by otolaryngologists for ease of interpretation. The relevant normal anatomy and development of the inner ear are briefly surveyed, standard imaging protocols for studying the inner ear are reviewed, and the imaging appearances of frequently observed inner ear malformations are described and illustrated. The impact of the identification of these malformations and commonly associated brain abnormalities on clinical management and prognosis also is discussed.

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Section: Complete Labyrinthine Aplasia-completementioning

confidence: 99%

CT and MR Imaging of the Inner Ear and Brain in Children with Congenital Sensorineural Hearing Loss

Joshi¹,

Navlekar²,

Kishore³

et al. 2012

RadioGraphics

153

134

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“…Middle ear defects could be coincidental or they may represent an inconstant, variable finding in LAMM syndrome. The association between complete labyrinthine aplasia and middle ear malformations has been recently reported by Ozgen et al [2009] in a series of nine cases (LAMM syndrome was not diagnosed in any of them): middle ear volumes were decreased in most of the ears; moreover stapes was aplastic in one ear and dysplastic in five. Moreover, the inactivaction of the genes EYA1 and SIX1, both involved in otic placode specification, causes branchio-otorenal syndrome, which is characterized by primary inner ear aplasia or severe cochlear malformations associated to outer and middle ear malformations.…”

Section: Discussionmentioning

confidence: 99%

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations

Ceruti

Trevisi

Gualandi

et al. 2011

American J of Med Genetics Pt A

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We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did not show any of the two newly reported missense variations. We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome.

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“…The vestibule and semicircular canals may be normal or malformed. This malformation was first described by Mondini [2,[12][13][14][15][16][17] . We didn't determine Mondini dysplasia among our patients.…”

Section: Discussionmentioning

confidence: 99%

Temporal bone congenital anomalies and variatons

Sarsilmaz

Altay

Erdoğan

et al. 2016

IJDI

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Background: We aimed to review the imaging findings of the most common congenital anomalies of the temporal bone and variations of the anatomic landmarks. Material and methods:We retrospectively reviewed the 1,894 temporal bone computed tomography (CT) and 986 temporal bone magnetic resonance imaging (MRI) with regard to congenital anomaly and accompanying pathologies. Thin-section CT and thin-section T2-weighted gradient echo or fast spin-echo MRI was performed to identify malformations. The cases were admitted to our hospital with hearing loss, tinnitus, vertigo and non-specific infection complaints. Results:We detected 22 cases with a temporal anomaly among 1,894 temporal CT and 986 temporal MRI images. We discussed the most common congenital anomalies of the temporal bone with imaging findings of our cases. Conclusion:This clinical/imaging review illustrates and reviews congenital abnormalities of the temporal bone: external, middle, and inner ear anomalies, vascular malformations, and variations in high-resolution CT and MR images.

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Complete Labyrinthine Aplasia: Clinical and Radiologic Findings with Review of the Literature

Cited by 45 publications

References 19 publications

CT and MR Imaging of the Inner Ear and Brain in Children with Congenital Sensorineural Hearing Loss

CT and MR Imaging of the Inner Ear and Brain in Children with Congenital Sensorineural Hearing Loss

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations

Temporal bone congenital anomalies and variatons

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