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

2011 ◽  
Vol 155 (12) ◽  
pp. 3007-3024 ◽  
Author(s):  
Samantha A. Schrier ◽  
Ilana Sherer ◽  
Matthew A. Deardorff ◽  
Dinah Clark ◽  
Lynn Audette ◽  
...  
Keyword(s):  
Large Study ◽  
Causes Of Death ◽  
Cornelia De Lange Syndrome ◽  
Study Cohort ◽  
Review Of The Literature ◽  
Autopsy Findings ◽  
Cornelia De Lange

scholarly journals Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

2009 ◽  
Vol 29 (5) ◽  
pp. 489-494 ◽  
Author(s):  
Karen Chong ◽  
Sarah Keating ◽  
Stephanie Hurst ◽  
Anne Summers ◽  
Howard Berger ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Autopsy Findings ◽  
Cornelia De Lange

A Case of the Cornelia de Lange Syndrome with the Autopsy Findings

1969 ◽  
Vol 11 (1) ◽  
pp. 6-6
Author(s):  
Kiichiro Koike ◽  
Kunitaro Baba ◽  
Shomei Kanaya ◽  
Futsumi Hotta ◽  
Riujo Yamada ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Autopsy Findings ◽  
Cornelia De Lange

Simon’s sign: Case report and review of the literature

2021 ◽  
pp. 002581722110062
Author(s):  
Michel Tawil ◽  
Serenella Serinelli ◽  
Lorenzo Gitto
Keyword(s):  
Case Report ◽  
Causes Of Death ◽  
Intervertebral Discs ◽  
Postmortem Examination ◽  
Lumbar Region ◽  
Potential Mechanism ◽  
Review Of The Literature ◽  
Careful Evaluation ◽  
Autopsy Findings ◽  
Anterior Aspect

Hanging is a common method of suicide and multiple autopsy findings can be observed at the postmortem examination. Simon's sign is a haemorrhage into the anterior aspect of the intervertebral discs of the lumbar region that can be observed in hangings and other traumatic causes of death. This finding is considered evidence of vitality. Several mechanisms have been proposed regarding bleeding development. In this paper, we present a case of hanging in which Simon's sign was observed at the autopsy. A review of the literature regarding Simon's bleeding has been performed, and a discussion of the potential mechanism is reported. Although Simon's sign may be observed in hangings, a careful evaluation of all the available data, including investigation, autopsy findings, and toxicology, is mandatory to avoid misinterpretation of death's cause and manner.

scholarly journals A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature

2019 ◽  
Vol 62 (6) ◽  
pp. 103526 ◽  
Author(s):  
Sanna Gudmundsson ◽  
Göran Annerén ◽  
Íñigo Marcos-Alcalde ◽  
Maria Wilbe ◽  
Malin Melin ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Syndrome Type ◽  
Review Of The Literature ◽  
Clinical Description ◽  
Cornelia De Lange

A novelRAD21variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature

2016 ◽  
Vol 91 (4) ◽  
pp. 647-649 ◽  
Author(s):  
M.I. Boyle ◽  
C. Jespersgaard ◽  
L. Nazaryan ◽  
A.-M. Bisgaard ◽  
Z. Tümer
Keyword(s):  
Phenotypic Variation ◽  
Cornelia De Lange Syndrome ◽  
Review Of The Literature ◽  
Cornelia De Lange

scholarly journals i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome

2015 ◽  
Vol 2015 (mar24 2) ◽  
pp. bcr2014209124-bcr2014209124 ◽  
Author(s):  
A. Galderisi ◽  
G. De Bernardo ◽  
E. Lorenzon ◽  
D. Trevisanuto
Keyword(s):  
Low Birthweight ◽  
Cornelia De Lange Syndrome ◽  
Very Low Birthweight ◽  
Cornelia De Lange ◽  
Very Low Birthweight Infant

scholarly journals A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 142
Author(s):  
Anca Maria Panaitescu ◽  
Simona Duta ◽  
Nicolae Gica ◽  
Radu Botezatu ◽  
Florina Nedelea ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Facial Features ◽  
Genetic Condition ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Limb Reduction ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

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