Results 151 to 160 of about 60,147,798 (196)
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Nursing Children and Young People, 2016
Cornelia de Lange syndrome is a congenital condition that can affect many of a child's systems. It was named after the Dutch paediatrician who first identified it.
Doreen, Crawford, Annette, Dearmun
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Cornelia de Lange syndrome is a congenital condition that can affect many of a child's systems. It was named after the Dutch paediatrician who first identified it.
Doreen, Crawford, Annette, Dearmun
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Clinical Genetics, 2014
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.
Boyle, M I +4 more
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Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.
Boyle, M I +4 more
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Epidemiology of Cornelia De Lange's Syndrome.
Acta Paediatrica, International Journal of Paediatrics, 1976Abstract. A prevalence investigation of Cornelia de Lange's syndrome in Denmark is presented. The patients were traced by screening all institutionalized mentally retarded patients, patients in schools and kindergartens for imbecile patients and finally by getting information on Cornelia de Lange patients known to pediatric departments. In this way 24
B Beck
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Neonatal Network, 2022
Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000–100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a “transcriptomopathy”
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Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000–100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a “transcriptomopathy”
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The Cornelia de Lange syndrome
The Journal of Pediatrics, 1963Attention is called to a complex syndrome of severe growth failure and mental retardation with characteristic associated congenital malformations. Incomplete, and to some extent, faulty differentiation accounts for most of the morphologic anomalies; however, a most important feature of the syndrome is the striking delay in the maturation of structure ...
L J, PTACEK +4 more
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Chromosomes in the Cornelia de Lange syndrome
Human Genetics, 1981This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods.
B, Beck, M, Mikkelsen
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Insomnia in Cornelia de Lange Syndrome
International Journal of Pediatric Otorhinolaryngology, 2012Up to 55% of patients with Cornelia de Lange Syndrome (CdLS) experience sleep disturbance. Prior evaluation of children without CdLS with similar intellectual disability and self-injurious behavior suggests that sleep disturbances may be related to insomnia or circadian issues.Caregivers of 31 patients (19 children) with CdLS completed a sleep history ...
Roy, Rajan +7 more
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2010
Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement.
Liu, J., Baynam, G.
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Cornelia de Lange syndrome (CdLS) (OMIM # 122470, #300590 and #610759) is an autosomal dominant disorder that is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement.
Liu, J., Baynam, G.
openaire +2 more sources