General anaesthesia with and without intubation for patients with Cornelia de Lange syndrome

Asahi, Yoshinao; Tsujimoto, Ikuko; Kawai, Yusuke; Sugimoto, Masahiro; Suzuki, Takahiro; Omichi, Shiro; Kogo, Mikihiko; Kotani, Junichiro

doi:10.1080/22201173.2009.10872614

Cited by 2 publications

(3 citation statements)

References 7 publications

(5 reference statements)

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“…This study found that difficulty falling asleep and maintaining sleep affected 33% of adults and 52% to 75% of children with CdLS, indicating that circadian dysrhythmia is prevalent in this population . Other unspecified sleep disorders were present in 46.1% (95% CI: 12.2–79.0) of patients …”

Section: Resultsmentioning

confidence: 97%

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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: 97%

“…51 Other unspecified sleep disorders were present in 46.1% (95% CI: 12.2-79.0) of patients. 32,48,50 Sleep disorders were reported in three out of the 34 case reports reviewed, including sleep-disordered breathing (1), OSA (1), and skin dermatitis due to CPAP mask (1). 34,53,54…”

Section: Sleep Disordersmentioning

confidence: 99%

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

2019

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“…Intubation can be difficult in individuals with CdLS, owing to a small mouth, small chin, short neck, stiffness of the temporomandibular joints and cleft palate 52,114 . Therefore, consultation with an anaesthesiologist before surgery is advisable (R42).…”

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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General anaesthesia with and without intubation for patients with Cornelia de Lange syndrome

Cited by 2 publications

References 7 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

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