Temporal Bone CT Findings in Cornelia de Lange Syndrome

Kim, J.; Kim, Eung Yeop; Lee, J. S.; Lee, W. S.; Kim, H. N.

doi:10.3174/ajnr.a0888

Cited by 18 publications

(10 citation statements)

References 20 publications

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“…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%

“…Twenty-five case series reported on otologic manifestations of CdLS (Table II). Hearing loss was reported for many of these patients, with sensorineural hearing loss affecting 40 2,5,[11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] Five case series reported on middle ear anomalies. 19,23,30,32 Ossicular chain anomalies affected 57.2% (42.3-72.1) of patients.…”

Section: Otologic Manifestationsmentioning

confidence: 99%

“…19 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). 20 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. 23 We found that 40.6% (95% CI: 34.7-100) of patients had unspecified middle ear anomalies.…”

Section: Otologic Manifestationsmentioning

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: Otologic Manifestationsmentioning

confidence: 99%

Section: Otologic Manifestationsmentioning

confidence: 99%

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

2019

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“…Middle and inner ear abnormalities in individuals with CdLS include malformed ossicles, especially the malleus and incus, small mastoids, cochlear abnormalities, malformed vestibules and soft-tissue opacification of the tympanomastoid cavity 102,103 . Findings on temporal bone computed tomography, especially soft tissue in the middle ear, correlate well with audiometric data 103 , and imaging studies are useful to assess the cause of hearing loss.…”

Section: Sensesmentioning

confidence: 99%

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

et al. 2018

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Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

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“…For audiologic testing, either brainstem-evoked response audiometry (BERA) or pure tone audiometry (PTA) was performed in line with the age of the patient, and the pure tone average was calculated with the thresholds at 0.5, 1, 2, and 4 kHz. High-resolution temporal bone CT was performed with a 16 row multi-detector CT scanner (SOMATOM Sensation 16; Siemens, Erlangen, Germany) by using a standard temporal bone protocol (18). Contiguous 0.7-mm scans of the temporal bone were acquired in the axial plane and reformatted coronally with 1.0-mm increments.…”

Section: Methodsmentioning

confidence: 99%

Clinical and molecular characterizations of novelPOU3F4mutations reveal that DFN3 is due to null function of POU3F4 protein

Lee

Song

Kang

et al. 2009

Physiological Genomics

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UK. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics 39: 195-201, 2009. First published August 11, 2009 doi:10.1152/physiolgenomics.00100.2009.-X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused by mutations in the POU3F4 locus, which encodes a member of the POU family of transcription factors. Despite numerous reports on clinical evaluations and genetic analyses describing novel POU3F4 mutations, little is known about how such mutations affect normal functions of the POU3F4 protein and cause inner ear malformations and deafness. Here we describe three novel mutations of the POU3F4 gene and their clinical characterizations in three Korean families carrying deafness segregating at the DFN3 locus. The three mutations cause a substitution (p.Arg329Pro) or a deletion (p.Ser310del) of highly conserved amino acid residues in the POU homeodomain or a truncation that eliminates both DNA-binding domains (p.Ala116fs). In an attempt to better understand the molecular mechanisms underlying their inner ear defects, we examined the behavior of the normal and mutant forms of the POU3F4 protein in C3H/10T1/2 mesodermal cells. Protein modeling as well as in vitro assays demonstrated that these mutations are detrimental to the tertiary structure of the POU3F4 protein and severely affect its ability to bind DNA. All three mutated POU3F4 proteins failed to transactivate expression of a reporter gene. In addition, all three failed to inhibit the transcriptional activity of wild-type proteins when both wildtype and mutant proteins were coexpressed. Since most of the mutations reported for DFN3 thus far are associated with regions that encode the DNA binding domains of POU3F4, our results strongly suggest that the deafness in DFN3 patients is largely due to the null function of POU3F4. hearing loss; X-linked deafness type 3; inner ear CONGENITAL HEARING LOSS IS one of the most common sensory disorders in humans, affecting approximately one in 1,000 newborns (24). More than 50% of the congenital hearing loss is due to genetic causes, and the majority of these hereditary cases are nonsyndromic. While most genetic nonsyndromic hearing loss is caused by mutations in autosomal genes, X-linked cases are estimated to comprise between 1 and 5% of these (26). Thus far, four different X-linked nonsyndromic hearing loss loci (DFN2, DFN3, DFN4, and DFN6) have been mapped, but the causative gene has been identified only for the DFN3 locus (33).X-linked deafness type 3 (DFN3) accounts for ϳ50% of all families carrying X-linked nonsyndromic hearing loss (26). Clinical characteristics of DFN3 in affected males include temporal bone abnormalities, stapes fixation, and, in most cases, a mixed type of hearing loss, which is often progressive (7,8,10). Anatomical anomalies of the temporal bone revealed by computer-assisted tomography (CT) include dilatation of the lateral end of the internal acoustic canal (IAC...

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Temporal Bone CT Findings in Cornelia de Lange Syndrome

Cited by 18 publications

References 20 publications

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

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

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Clinical and molecular characterizations of novelPOU3F4mutations reveal that DFN3 is due to null function of POU3F4 protein

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