Otologic characteristics of individuals with deletions of distal 18q

Perry, Brian P.; Cody, Jannine D.

doi:10.1002/lary.24769

Cited by 6 publications

(2 citation statements)

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“…There was some correlation between microtia and temporal bone malformation, evaluated using Marx grading systems 16 . Sixty-six percent of the individuals with deletions of the distal long arm of chromosome 18 had aural stenosis or atresia, and none of these subjects had microtia 17 . However, we also evaluated the relationship between the degree of microtia and EAC cholesteatoma, and there was no significant difference using the Marx grading system.…”

Section: Discussionmentioning

confidence: 99%

Congenital Aural Stenosis: Clinical Features and Long-term Outcomes

Chen

et al. 2016

J. Laryngol. Otol.

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The aim of the present study was to comprehensively evaluate the clinical features and long-term outcomes of congenital aural stenosis (CAS). This study presents a retrospective review of patients who underwent meatoplasty for CAS at a tertiary referral hospital from 2008 to 2015. A total of 246 meatoplasty procedures were performed on 232 patients in the present study. We performed multivariate regression analysis. Except in the age < 6 years group, no significant difference was observed among different age groups for cholesteatoma formation, p > 0.05. Except for the stenosis of the external auditory canal (EAC) (>4 mm) group, the other stenosis of EAC groups were not associated with cholesteatoma formation, p > 0.05. Postoperative air-bone gaps (ABG) less than 30 dB occurred in 77.3% (99/128) of the patients, and the Jahrsdoerfer score was associated with postoperative ABG, p < 0.001. The complication rate of CAS was 13.8% (20/144), and males showed a higher risk for postoperative complications (OR, 6.563; 95% CI, 1.268-33.966, p = 0.025). These results indicate that meatoplasty was an effective surgical intervention for CAS, showing a stable hearing outcome with prolonged follow-up. There was no significant difference between the cholesteatoma and no cholesteatoma groups for hearing outcomes, p > 0.05.Congenital aural stenosis (CAS) carries a much greater risk of cholesteatoma compared with congenital aural atresia (CAA). Cole and Jahrsdoerfer defined CAS as an external auditory canal (EAC) with a diameter of 4 mm or less that frequently occurs in conjunction with grade 1 and grade 2 microtia. This diameter was selected because none of the patients with canal openings larger than 4 mm developed cholesteatoma 1,2 . The diagnosis of CAS is based on clinical examination (anamnesis, physical and audiometric evaluation) and imaging, particularly high-resolution computed tomography (HRCT) of the temporal bones 3 . The treatment of EAC cholesteatoma depends on the extent of the disease. Small lesions can typically be controlled with regular debridement, combined with the administration of topical antibiotics, while large and destructive lesions require surgery 4 . The data on patients with CAS are limited, and the fundamental knowledge of CAS is still based on Cole and Jahrsdoerfer (1990). Two important parameters to consider when managing with CAS are patient age and stenosis size 1 . Patients with stenosis sizes of 2 mm or less are at high risk for developing cholesteatoma and should undergo surgery; however, the data in the present study challenged this viewpoint. To date, there are no large sample studies focusing on the clinical features and long-term outcomes of CAS, and no studies have described the important parameter of measuring the diameter of EAC [5][6][7][8][9][10][11] . The aim of the present study was to comprehensively evaluate the clinical features and long-term outcomes of CAS, and challenge the previous viewpoint. Previous studies analysing the clinical features of CAS involved small sample sizes,...

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Section: Discussionmentioning

confidence: 99%

Congenital Aural Stenosis: Clinical Features and Long-term Outcomes

Chen

et al. 2016

J. Laryngol. Otol.

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“…Congenital aural atresia is a clue for clinicians to consider 18q deletion syndrome. Perry and Cody [2014] also investigated the association between hearing impairment and 18q deletion. Conductive hearing impairment was identified in 49.5%, sensorineural hearing loss was identified in 28%, and eustachian tube dysfunction was found in 78% of 18q deletion syndrome patients.…”

Section: Sexmentioning

confidence: 99%

Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH

Anlaş¹,

Ölmez²,

Karaman³

et al. 2023

Mol Syndromol

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Introduction: Chromosomal abnormalities are mostly found in 0.5–0.8% of live-born infants with developmental and morphological defects. Paracentric inversions are structural intrachromosomal rearrangements resulting in a risk of chromosomally unbalanced gametes in carriers. Case Presentation: Herein, we report a patient with dicentric rearrangement of chromosome 18 due to maternal paracentric inversion of chromosome 18. The patient was a girl, aged 3 years and 11 months. She was referred due to multiple congenital abnormalities, severe intellectual disability, and motor retardation. She had microcephaly, prominent metopic suture, synophrys, epicanthic folds, telecanthus, wide-set alae nasi, wide columella, bilateral cleft lip and palate, pectus carinatum, umbilical hernia, pes planus, and anteriorly displaced anus. She had bilateral external auditory canal stenosis and mild right-sided and moderate left-sided sensorineural hearing loss. Echocardiography showed secundum-type atrial septal defect and mild tricuspid failure. Brain magnetic resonance imaging showed only thinning of posterior areas of the corpus callosum. Chromosome analysis showed 46,XX,dic rec(18) by GTG and C banding. Dicentric chromosome was confirmed by fluorescence in situ hybridization analysis. Paternal karyotype was normal 46,XY but maternal chromosome analysis showed a paracentric inversion in chromosome 18 with 46,XX,inv(18)(q11.2?q21.3?) karyotype. Array CGH was performed on a peripheral blood sample from the patient and showed duplication at 18p11.32p11.21 and 18q11.1q11.2, and deletion at 18q21.33q23. The patient’s final karyotype is arr 18p11.32p11.21(64,847_15,102,598)×3,18q11.1q11.2(18,542,074_22,666,470)×3,18q21.33q23(59,784,364_78,010,032)×1. Discussion: To the best of our knowledge, this is the first report of a patient with dicentric chromosome 18 due to a parental paracentric inversion of chromosome 18. We present the genotype-phenotype correlation with literature review.

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