Results 131 to 140 of about 3,407 (171)
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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.
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Chromatinopathies: A focus on Cornelia de Lange syndrome
Clinical Genetics, 2019Abstract In recent years, many genes have been associated with chromatinopathies classified as “Cornelia de Lange Syndrome‐like.” It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin ...
Avagliano, Laura +9 more
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The Indian Journal of Pediatrics, 1970
A 13-month-old boy having typical features of Cornelia de Lange syndrome is described. Two additional features were capillary hemangiomata and abnormal dermatoglyphic patterns. He had repeated lower respiratory tract infections and succumbed at the age of 15 months to bronchopneumonia.
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A 13-month-old boy having typical features of Cornelia de Lange syndrome is described. Two additional features were capillary hemangiomata and abnormal dermatoglyphic patterns. He had repeated lower respiratory tract infections and succumbed at the age of 15 months to bronchopneumonia.
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Cornelia De Lange Syndrome and Congenital Diaphragmatic Hernia
Journal of Pediatric Surgery, 2021Vikas S Gupta +2 more
exaly
Archives of Pediatrics & Adolescent Medicine, 1966
To the Editor : Lately the Cornelia de Lange syndrome has received a great deal of attention in pediatric journals. Although the published cases are reported in white children, doctors in the San Francisco region also find the syndrome in children of Japanese or Chinese background.
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To the Editor : Lately the Cornelia de Lange syndrome has received a great deal of attention in pediatric journals. Although the published cases are reported in white children, doctors in the San Francisco region also find the syndrome in children of Japanese or Chinese background.
openaire +1 more source
Fetal Phenotype of Cornelia De Lange Syndrome With a Molecular Confirmation
European Journal of Obstetrics, Gynecology and Reproductive Biology, 2023Dong-Zhi Li, Qiu-Xia Yu, Xiao-Mei Lin
exaly
Chromatinopathies: A Focus on Cornelia De Lange Syndrome
Clinical Genetics, 2020Angelo Selicorni +2 more
exaly
Endocrinopathies in Cornelia de Lange syndrome
The Journal of Pediatrics, 1990I D, Schwartz +4 more
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