Improvement in hearing loss over time in Cornelia de Lange syndrome

Janek, Kevin C.; Dl, Smith; Kline, Antonie D.; Benke, James R.; Chen, Mei Ling; Kimball, Amy; Ishman, Stacey L.

doi:10.1016/j.ijporl.2016.06.032

Cited by 12 publications

(35 citation statements)

References 18 publications

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“…Five case series reported on middle ear anomalies . Ossicular chain anomalies affected 57.2% (42.3–72.1) of patients . More specifically, these included dysmorphism of the malleus and incus (large malleus head and incus body) in 12 of 20 ears and a bony cleft on the incus body in 10 of 20 ears in one case series .…”

Section: Resultsmentioning

confidence: 99%

“…Other middle ear anomalies were reported in nine of 10 patients and included hypoplastic mastoid in 12 of 20 ears and soft‐tissue opacification of the tympanomastoid cavity in eight of 20 ears (Kim et al) . Both unspecified ossicular chain dysmorphism and soft‐tissue opacification in the tympanomastoid cavity were reported in 40.6% (95% CI: 34.7–100) of patients without specification of the prevalence of either anomaly or whether they were found separately or in combination . We found that 40.6% (95% CI: 34.7–100) of patients had unspecified middle ear anomalies …”

Section: Resultsmentioning

confidence: 99%

“…Hearing loss was reported for many of these patients, with sensorineural hearing loss affecting 40.3% (95% CI: 17.3–63.4), conductive hearing loss affecting 22.7% (95% CI: 5.7–39.7), and mixed or unspecified hearing loss affecting 34.5 (95% CI: 19.3–49.7) (Fig. ) . When hearing loss was present, it was mild in 30.4% (95% CI: 10.8–50.1), moderate in 18.1% (95% CI: 11.3–25.0), moderate to severe in 22.0% (95% CI: 8.4–35.7), severe in 21.9% (95% CI: 13.3–30.7), and profound in 29.4% (95% CI: 16.4–42.3).…”

Section: Resultsmentioning

confidence: 99%

“…Five case series reported on middle ear anomalies . Ossicular chain anomalies affected 57.2% (42.3–72.1) of patients .…”

Section: Resultsmentioning

confidence: 99%

“… These anomalies included incomplete‐partitioned cochlea (9 of 20 ears), hypoplastic cochlea with modiolar deficiency (12 of 20 ears), an abnormally shaped vestibule with a focal protrusion at the posterioinferior aspect (15 of 20 ears), and facial nerve dehiscence in the tympanic and mastoid segments (3 of 20 ears) in one case series . One patient of 32 (3.1%) had an incomplete‐partitioned and hypoplastic cochlea with modiolar deficiency in another case series . Finally, unspecified “ear anomalies” were reported 51.9% (95% CI: 21.9–91.8%) in three case series …”

Section: Resultsmentioning

confidence: 99%

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Cornelia de lange manifestations in otolaryngology: A systematic review and meta‐analysis

2019

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Objectives Cornelia de Lange syndrome (CdLS) is a rare genetic disorder. Our goal was to systematically review the literature regarding otolaryngology manifestations of CdLS. Methods We systematically reviewed the PubMed, Embase, CINAHL, Scopus, and Google Scholar databases for original articles of otolaryngology manifestations for patients with CdLS. These articles were analyzed, and pooled prevalence was calculated. Results We analyzed 1,310 patients included in 35 case series and 34 case reports. Hearing loss was present for many patients (27 studies), with sensorineural hearing loss affecting 40.3% (95% confidence interval [CI]: 17.3–63.4) and conductive affecting 22.7% (95% CI: 5.7–39.7). Recurrent acute otitis media was the most frequent infectious manifestation, with 56.5% (95% CI: 34.1–78.4) in seven studies, followed by recurrent airway infections with 44.1% (95% CI: 11.0–87.1) in five studies. Forty‐nine (49.7%) percent of patients (95% CI: 25.9–73.6) in nine studies had dysphagia, and 76.6% (95% CI: 59.8–93.3) in four studies had some degree of dysphonia. Craniofacial anomalies were reported in 30 studies, with micrognathia (53.1%; 95% CI: 34.1–72.1) and high arched palate (70.6%; 95% CI: 56.5–84.8) commonly reported. Additional physical exam abnormalities reported included those involving: lips (76.8%; 95% CI: 65.3–88.4), dentition (65.1%; 95% CI: 27.2–100), mouth (85.5%; 95% CI: 76.2–93.8), and eyelashes (87.1%; 95% CI: 77.2–96.9). Sleep‐disordered breathing or obstructive sleep apnea affected 25.8% (95% CI: 11.4–40.2) of patients (7 studies). Airway anomalies were reported in 11 case reports. Conclusion This is the first comprehensive evaluation of otolaryngologic manifestations in the CdLS literature. Most reported hearing loss and craniofacial anomalies. Sleep disorders occurred in a minority of patients, whereas airway disorders were primarily reported in case reports. These conditions should be further examined given their potential life‐threatening implications. Level of Evidence 3a Laryngoscope, 130:E122–E133, 2020

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

“…Five case series reported on middle ear anomalies . Ossicular chain anomalies affected 57.2% (42.3–72.1) of patients .…”

Section: Resultsmentioning

confidence: 99%