Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

Verheij, Emmy; Elden, Lisa; Crowley, T. Blaine; Pameijer, Frank A.; Zackai, Elaine H.; McDonald‐McGinn, Donna M.; Thomeer, Hans G. X. M.

doi:10.3174/ajnr.a5588

Cited by 23 publications

(24 citation statements)

References 49 publications

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“…A pathologically hyperdensity was also found in the manubrium of the malleus in 2 ears. Abnormal malleus, incus and anomalous stapes orientation were also described [71,74]. The Authors speculate against the possible "tympanosclerotic" origin of these dense ossicles, given that it was also encountered in newborns with no history of otitis media and in patients with no signs of reduced mobility of the ossicular chain at audiogram [74].…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 95%

“…Inner ear: In one study, 33 % of the patients had a malformed lateral SCC and 29 % showed a single cavity between the vestibule and lateral SCC [74] (Fig. 10C).…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 97%

“…SMARCB1, HIRA, COMT) there is the Tbx1 gene, which is considered responsible for the majority cardiovascular and otologic findings [73]. Tbx1 is necessary for development of middle and inner ear and, in mice, inactivation of Tbx1 in the otic vesicle disrupts inner ear development [72,74]…”

Section: General Characteristicsmentioning

confidence: 99%

“…In 22q11 deletion syndrome patients, main indications for imaging are hearing loss and chronic otitis media [74]. Numerous malformative features are recognised:…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 99%

“…External ear: aural atresia with some overlap between 22q11DS and Oculo-Auriculo-Vertebral Spectrum (OAVS) [75,74).…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 99%

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Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

D’Arco

Youssef

Ioannidou

et al. 2020

European Journal of Radiology

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To describe in detail the temporal bone and brain findings in both common and rare syndromic causes of hearing loss, with the purpose of broadening among radiologists and enhance the current understanding of distinct imaging features in paediatric patients with syndromic hearing loss. Methods: A detailed search of electronic databases has been conducted, including PubMed, Ovid Medline, Scopus, Cochrane Library, Google Scholar, National Institute for Health and Care Excellence (NICE), Embase, and PsycINFO. Results: Syndromic causes of hearing loss are characterised by different and sometimes specific abnormalities in the temporal bone. Conclusion: A complete knowledge of the image findings in the temporal bones, brain, skull and other body regions is critical for the optimal assessment and management of these patients. 2.1. Inner ear The inner ear development starts late in the 3rd week of gestation, with the formation of the otic placode (an ectodermal thickening on both sides of the developing head).The otic placode later invaginates to form otic pits which then fuse to form the otic vesicle. By day 26, the ventral region of otic vesicle differentiates into the saccule, the lower pole of which gives rise to the cochlear duct, which will form 2.5 turns by the 8th week. During the 7th week, cochlear duct epithelial cells differentiate to form the Organ of Corti. The mesenchyme surrounding the cochlear

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Section: Petrous Bone Imaging Findingsmentioning

confidence: 95%

“…Inner ear: In one study, 33 % of the patients had a malformed lateral SCC and 29 % showed a single cavity between the vestibule and lateral SCC [74] (Fig. 10C).…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 97%

Section: General Characteristicsmentioning

confidence: 99%

“…In 22q11 deletion syndrome patients, main indications for imaging are hearing loss and chronic otitis media [74]. Numerous malformative features are recognised:…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 99%

“…External ear: aural atresia with some overlap between 22q11DS and Oculo-Auriculo-Vertebral Spectrum (OAVS) [75,74).…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 99%

See 3 more Smart Citations

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

D’Arco

Youssef

Ioannidou

et al. 2020

European Journal of Radiology

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Hearing Loss in Children with 22q11.2 Deletion Syndrome

Arganbright,

Crowley,

Tracy

et al. 2024

The Laryngoscope

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ObjectivesHearing loss is considered common in children with 22q11.2 deletion syndrome (22q11.2DS), with a few prior studies reporting a 32%–78% prevalence; mild–moderate conductive hearing loss has been reported most commonly. Overall, however, there remains a paucity of data regarding the frequency, type, age, and progression of hearing loss in children with 22q11.2DS.MethodsRetrospective chart review was completed, and data combined for two large 22q centers. Inclusion criteria were children with 22q11.2DS and a documented audiogram. Data extracted included a laboratory‐confirmed chromosome 22q11.2 deletion; co‐morbidities; results of all audiograms and radiologic temporal bone imaging; and otologic surgical procedures.ResultsOne thousand seven hundred sixty‐nine charts were reviewed; 775 met inclusion criteria. Of these, 563 (73%) children had at least one abnormal audiogram demonstrating hearing loss. A total of 2,536 audiograms were reviewed; 74% of these showed abnormal hearing in at least one ear. Most of the hearing loss was conductive (right ear 76%; left ear 69%) and mild severity. For the children with SNHL, 90% of all follow‐up audiograms were stable without progression. Hearing loss was identified across all pediatric age ranges. Ear tube placement occurred in 39% of children.ConclusionThis study confirms the high incidence of hearing loss for children with 22q11.2DS at some point in their childhood. In our cohort, hearing loss occurred in 73% of children and was most often conductive and mild in severity. The results highlight the importance of otolaryngology and audiology involvement in managing children with 22q11.2DS for timely diagnosis and treatment of hearing loss.Level of Evidence4 Laryngoscope, 2024

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Otorhinologic Disorders in 22q11.2 Deletion Syndrome

Kacin

Shaffer

et al. 2023

Otolaryngol.--head neck surg.

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ObjectiveInvestigate incidence and natural history of otologic and sinonasal disease associated with 22q11.2 deletion syndrome.Study DesignCase series.SettingTertiary care children's hospital.MethodsCharts from consecutive children born 2000 to 2018 with a diagnosis of 22q11.2 deletion, DiGeorge, or velocardiofacial syndrome based on the International Classification of Diseases (ICD)‐9 and ICD‐10 codes were reviewed. Otologic and rhinologic diagnoses and surgeries and immune and microbiologic laboratory findings were collected from the medical record.ResultsAfter the exclusion of patients with no 22q11.2 deletion (n = 101), otologic care at an outside hospital (n = 59), and loss to follow‐up prior to 3 years of age (n = 22), 128 were included. Males comprised 80 (62.5%) patients, 115 (89.8%) were white, and the median age at genetic confirmation of 22q11.2 deletion was 119 days (range 0 days to 14.6 years). Recurrent acute otitis media (RAOM), chronic otitis media with effusion, chronic rhinosinusitis, and recurrent acute sinusitis were diagnosed in 54 (42.2%), 37 (28.9%), 10 (7.8%), and 8 (6.3%), respectively. Tympanostomy tubes were placed in 49 (38.3%). Adenoidectomy and sinus surgery were performed in 38 (29.7%) and 4 (3.1%), respectively. Neither immunoglobulin nor cluster of differentiation deficiency increased the odds of RAOM diagnosis, tympanostomy tube placement, or chronic/recurrent sinusitis. Methicillin‐resistant Staphylococcus aureus was the most common organism in sinus cultures (4/13, 30.8%). Streptococcus pneumonia dominated otorrhea cultures (11/21, 52.4%).ConclusionApproximately half of children with 22q11.2 deletion may experience otologic disease that often requires surgical management. Future studies will utilize a larger cohort to examine the role of immunodeficiency in otologic and rhinologic disease in this population.

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Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

Abstract: Middle and inner ear abnormalities were frequently encountered in our cohort, including malformations of the lateral semicircular canal.

Cited by 23 publications

References 49 publications

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

Hearing Loss in Children with 22q11.2 Deletion Syndrome

Otorhinologic Disorders in 22q11.2 Deletion Syndrome

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