Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

Mariani, Milena; Decimi, Valentina; Bettini, Laura Rachele; Maitz, Silvia; Gervasini, Cristina; Masciadri, Maura; Ajmone, Paola Francesca; Kullman, Gaia; Dinelli, M.; Panceri, Roberto; Cereda, Anna; Selicorni, Angelo

doi:10.1002/ajmg.c.31502

Cited by 29 publications

(49 citation statements)

References 20 publications

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“… Palate abnormalities were also fairly common, with cleft palate affecting 22.0% (95% CI: 15.1–28.8) and high arched palate affecting 70.6% (95% CI: 56.5–84.8) (Fig. ) .…”

Section: Resultsmentioning

confidence: 94%

“…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%

“…). GERD was the most widely reported on disorder, with a proportional prevalence of 58.0% (95% CI: 42.1–74.0) . Dysphagia or feeding difficulties were reported in 49.7% (95% CI: 25.9–73.6) of patients, and esophageal dysmotility was present in one case series for 13% (6 of 49) …”

Section: Resultsmentioning

confidence: 99%

“…This disorder can present with clinical features affecting many different organ systems, including cardiovascular, gastrointestinal, musculoskeletal, craniofacial, and neuropsychiatric manifestations with variable penetrance. Gastroesophageal reflux disease (GERD) is one of the most commonly seen comorbidities resulting in significant feeding difficulties . In addition, cardiac septal defects and the absence of the forearms and digits are also frequently reported …”

Section: Introductionmentioning

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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“… Palate abnormalities were also fairly common, with cleft palate affecting 22.0% (95% CI: 15.1–28.8) and high arched palate affecting 70.6% (95% CI: 56.5–84.8) (Fig. ) .…”

Section: Resultsmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

2019

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“…There is limited literature on adults with CdLS due to SMC3 mutations. Kline et al [15] and Mariani et al [16] have described clinical features found in two separate adolescent and adult CdLS cohorts. Neither of the two reports indicates clinical features in adults with SMC3 mutations specifically.…”

Section: Discussionmentioning

confidence: 99%

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Infante

Alkorta‐Aranburu

El-Gharbawy

2017

Clinical Case Reports

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Key Clinical MessageClinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped‐B‐like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.

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Syndromic and Nonsyndromic Obesity: Underlying Genetic Causes in Humans

Duis

Butler

2022

Advanced Biology

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cardiovascular disease, hypertension, cancers, orthopedic problems, and reduced fertility.Genetic factors can be classified as monogenic or caused by variants of single genes, polygenic involving several interacting genes, or syndromes accompanying obesity and recognized phenotypes. Neurological dysfunction or abnormal regulation of energy utilization, expenditure or storage via hormone production, transport or receptors impact overall energy homeostasis. [1,2] Furthermore, heritability estimates indicate that genetic factors may contribute to up to 70% of obesity, primarily affecting genetic pathways common in lipid metabolism, fat deposition or lipid transport, eating behavior, food selection and hormones, physical activity or energy expenditure based on studies from monozygotic twins reared apart and living in a different environment. [3] Heritability estimates do increase from infancy through adolescence. Over 10 000 references in the medical literature were identified when searching for obesity genes and syndromes with approximately 80 recorded obesityrelated syndromes. [1][2][3][4][5] The prevalence estimates for monogenic obesity syndromes range from about one in 550 to aprroximately one in 1 million. [5] Clinical findings identified in genetic obesity syndromes often overlap, as found in at least 52 related obesity syndromes displaying some form of intellectual disability while seven syndromes present with macrocephaly and seven syndromes with microcephaly. [5] Obesity syndromes may exhibit complex patterns of inheritance including autosomal dominant (e.g., Alstrom), autosomal recessive (e.g., Carpenter), X-linked (e.g., Borjeson-Forssman-Lehmann), errors in genomic imprinting (e.g., Prader-Willi), triallelic inheritance (e.g., Bardet-Biedel) or chromosome anomalies (e.g., 16p11.2 deletion). Hormonal Pathways and Genetic RegulationHormones and their role in appetite control and weight regulation are now an active area of research with clinical trials often focusing on hyperphagia and overeating, common in rare obesity-related disorders such as Prader-Willi syndrome. [6] Eating hormones are becoming increasingly recognized as playing a role in the central nervous system (CNS), particularly regions Growing evidence supports syndromic and nonsyndromic causes of obesity, including genome-wide association studies, candidate gene analysis, advanced genetic technology using next-generation sequencing (NGS), and identification of copy number variants. Identification of susceptibility genes impacts mechanistic understanding and informs precision medicine. The cause of obesity is heterogeneous with complex biological processes playing a role by controlling peptides involved in regulating appetite and food intake, cellular energy, and metabolism. Evidence for heritability shows genetic components contributing to 40%-70% of obesity. Monogenic causes and obesity-related syndromes are discussed and illustrated as well as biological pathways, gene interactions, and factors contributing to the obesity phenotype. Over 550...

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Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

Cited by 29 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

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Syndromic and Nonsyndromic Obesity: Underlying Genetic Causes in Humans

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