Probable Cornelia de Lange syndrome with progressive parkinsonism and dystonia

Fernández, Hubert H.; Friedman, Joseph H.; Famiglietti, Edward V.

doi:10.1002/1531-8257(200007)15:4<749::aid-mds1028>3.0.co;2-p

Cited by 5 publications

(5 citation statements)

References 13 publications

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“…In addition, there does not seem to be an increased incidence of cancers or other diseases of older age (e.g. Parkinson, Alzheimer disease) at least so far in our patients, unlike a previous case report describing parkinsonism and dystonia [Fernandez et al, 2000]. Finally, early neurodegenerative changes in the brain were not noted in an autopsy report of a 35‐year‐old man with CdLS [Vuilleumier et al, 2002].…”

Section: Discussioncontrasting

confidence: 66%

Natural history of aging in Cornelia de Lange syndrome

Kline

Grados

Sponseller

et al. 2007

American J of Med Genetics Pt C

146

177

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Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.

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Section: Discussioncontrasting

confidence: 66%

Natural history of aging in Cornelia de Lange syndrome

Kline

Grados

Sponseller

et al. 2007

American J of Med Genetics Pt C

146

177

View full text Add to dashboard Cite

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“…Fifty‐one autopsies are reported in the CdLS literature [Ptacek et al, 1963; Schlesinger et al, 1963; Thornburn, 1964; Bjorklof and Brundelet, 1965; Choo and Bianchi, 1965; Falek et al, 1965; Gans and Thurston, 1965; Hart et al, 1965; Huang et al, 1967; McArthur and Edwards, 1967; France et al, 1969; Berg et al, 1970; Lacourt et al, 1977; Taylor and Josifek, 1981; Wick et al, 1982; Westergaard et al, 1983; Beck and Fenger, 1985; Sato et al, 1986; Maruiwa et al, 1988; Filippi 1989; Heckmann et al, 1991; Jelsema et al, 1993; Pankau and Janig, 1993; Veall, 1994; DuVall and Walden, 1996; Hayashi et al, 1996; Manouvrier et al, 1996; Boog et al, 1999; Yamaguchi and Ishitobi, 1999; Fernandez et al, 2000; Ohkusu et al, 2001; Vuilleumier et al, 2002; Arbuzova et al, 2003; Hulinsky et al, 2005; Price et al, 2005]. Cardiac abnormalities were quite common, noted in 29 of the autopsies, and included 19 cases involving congenital heart defects.…”

Section: Resultsmentioning

confidence: 99%

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

Schrier

Sherer

Deardorff

et al. 2011

American J of Med Genetics Pt A

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To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 propositi with confirmed clinical diagnoses of CdLS in our database who died in a 41-year period between 1966–2007. Of these, 295 had an identifiable COD reported to us. Clinical, laboratory and complete autopsy data were completed on 41, of which 38 were obtainable, an additional 19 had autopsies that only documented the COD, and 45 propositi had surgical, imaging, or terminal event clinical documentation of their COD. Proband ages ranged from fetuses (21 to 40 weeks gestation) to 61 years. A literature review was undertaken to identify all reported causes of death in CdLS individuals. In our cohort of 295 propositi with a known COD, respiratory causes including aspiration/reflux and pneumonias were the most common primary causes (31%), followed by gastrointestinal disease, including obstruction/volvulus (19%). Congenital anomalies accounted for 15% of deaths and included congenital diaphragmatic hernia and congenital heart defects. Acquired cardiac disease accounted for 3% of deaths. Neurological causes and accidents each accounted for 8%, sepsis for 4%, cancer for 2%, renal disease for 1.7%, and other causes, 9% of deaths. We also present 21 representative clinical cases for illustration. This comprehensive review has identified important etiologies contributing to the morbidity and mortality in this population that will provide for an improved understanding of clinical complications, and management for children and adults with CdLS.

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“…Isolated neurological signs, such as dystonia 126 , and catatonia 127 are rare. Autonomic nervous system dysfunction, evaluated in a questionnaire study in 65 individuals with CdLS aged ≥8 years, was mildly disturbed in 81% of individuals and markedly disturbed in 26% 2 .…”

Section: Neurologymentioning

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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Probable Cornelia de Lange syndrome with progressive parkinsonism and dystonia

Cited by 5 publications

References 13 publications

Natural history of aging in Cornelia de Lange syndrome

Natural history of aging in Cornelia de Lange syndrome

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

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

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