Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

Kline, Antonie D.; Calof, Anne L.; Lander, Arthur D.; Gerton, Jennifer L.; Krantz, Ian D.; Dorsett, Dale; Deardorff, Matthew A.; Blagowidow, Natalie; Yokomori, Kyoko; Shirahige, Katsuhiko; Santos, Rosaysela; Woodman, Julie; Megee, Paul C.; O’Connor, Julia T.; Egense, Alena; Noon, Sarah E.; Belote, Maurice; Goodban, Marjorie T.; Hansen, Blake D.; Timmons, Jenni Glad; Musio, Antonio; Ishman, Stacey L.; Bryan, Yvon F.; Wu, Yaning; Bettini, Laura Rachele; Mehta, Daryush D.; Zakari, Musinu; Mills, Jason A.; Srivastava, Siddharth; Haaland, Richard E.

doi:10.1002/ajmg.a.37056

Cited by 5 publications

(3 citation statements)

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“…If such correlation was evident, then it might be possible to recommend specific medical interventions or preventative measures. Such information would be particularly valuable in this syndrome because difficult behaviors are common in CdLS and are often problematic to manage, and ultimately detrimental to families and to the CdLS individual's quality of life [Kline et al, ]. Brain changes are assumed to be congenital, although it is unclear whether any are progressive, although unlikely.…”

Section: Discussionmentioning

confidence: 99%

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Lal¹,

Kliewer²,

Lopes³

et al. 2016

American J of Med Genetics Pt C

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Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings.

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Section: Discussionmentioning

confidence: 99%

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Lal¹,

Kliewer²,

Lopes³

et al. 2016

American J of Med Genetics Pt C

Self Cite

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“…Multiple genetic analyses of large, well-characterized cohorts have found that 65% of patients with CdLS phenotypes had mutations in either the NIPBL (5p13.2), SMC1A (Xp11), or SMC3 (10q25) genes that are associated with the cohesin complex. [6][7][8][9] Additional candidate genes that may be responsible for the other 35% of clinical CdLS include other components of the cohesin ring, RAD21 and STAG1/ STAG2. Confirmatory gene panel testing is available for patients with clinical features consistent with CdLS.…”

Section: Discussionmentioning

confidence: 99%

Cornelia de Lange Syndrome: What Every Otolaryngologist should Know

2017

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Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.

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“…Nasal polyps (NP) in CdLS [5,6] were previously reported in association with chronic rhinosinusitis (CRS), however data about NP prevalence, diagnosis, treatment and prognosis are lacking for this cohort of patients.…”

Section: Introductionmentioning

confidence: 99%

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

et al. 2023

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Background Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. The classic phenotype is characterized by distinctive facial features, intellectual disability, growth delay, hirsutism, and upper-limb reduction. Nasal polyposis was previously reported in association with chronic rhinosinusitis, however data about prevalence, diagnosis, treatment and prognosis are lacking for this cohort of patients, affected by rare disease. Case presentation We describe the whole diagnostic and therapeutic workflow of nasal polyps in two pediatric patients with Cornelia de Lange, successfully diagnosed and treated by nasal endoscopy. Conclusion Our report confirm that nasal endoscopy is a safe and useful tool in the diagnosis, treatment and follow-up of nasal polyps, even in Cornelia de Lange syndrome pediatric patients. We want to increase the alert for the detection of nasal polyps in patients with Cornelia de Lange syndrome since pediatric age. We recommend endoscopy in all patients with Cornelia de Lange syndrome and symptoms of chronic nasal obstruction and/or OSAS. Multidisciplinary team and sedation service could be useful in the management of Cornelia de Lange syndrome patients with airway obstruction symptoms and sleep disturbance when severe intellectual disability, autism or psychiatric findings are present.

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Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: Abstracts from the 2014 Scientific and Educational Symposium

Cited by 5 publications

References 0 publications

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Cornelia de Lange Syndrome: What Every Otolaryngologist should Know

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

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