Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification

2020 ◽  
Vol 40 (12) ◽  
pp. 1578-1597
Author(s):  
Sara H. El‐Dessouky ◽  
Mohamed S. Abdel‐Hamid ◽  
Sherif F. Abdel‐Ghafar ◽  
Mona M. Aboulghar ◽  
Hassan M. Gaafar ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intracranial Calcification ◽  
Facial Features ◽  
Raine Syndrome

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.

Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings

2007 ◽  
Vol 143A (24) ◽  
pp. 3280-3285 ◽  
Author(s):  
David Chitayat ◽  
Patrick Shannon ◽  
Sarah Keating ◽  
Ants Toi ◽  
Susan Blaser ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Bone Dysplasia ◽  
Raine Syndrome

Intracranial calcification in Raine syndrome: radiological pathological correlation

1998 ◽  
Vol 28 (11) ◽  
pp. 820-823 ◽  
Author(s):  
Khaled Al Mane ◽  
Fouad Al-Dayel ◽  
Peter McDonald
Keyword(s):  
Intracranial Calcification ◽  
Pathological Correlation ◽  
Raine Syndrome

scholarly journals P44.16: Prenatal diagnosis of Neu Laxova syndrome without typical facial features

2007 ◽  
Vol 30 (4) ◽  
pp. 622-622
Author(s):  
M. Basbug ◽  
M. T. Ozgun ◽  
H. Akgun ◽  
I. S. Serin ◽  
M. Dundar ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Facial Features

Intracranial calcification in Raine syndrome

1996 ◽  
Vol 26 (1) ◽  
pp. 55-58 ◽  
Author(s):  
K. Al Mane ◽  
R. K. Coates ◽  
P. McDonald
Keyword(s):  
Intracranial Calcification ◽  
Raine Syndrome

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia B ◽  
New Strategy

185: Does Prenatal Diagnosis Influence the Morbidity Associated with Left in Non or Poorly-Functioning Renal Moiety After Endoscopoic Puncture of Ureterocele?

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Boris Chertin ◽  
Ron Rabinowitz ◽  
Avner Polak ◽  
Irit Hadas-Halpren ◽  
Amicur Farkas
Keyword(s):  
Prenatal Diagnosis

The Impact of Visual Stereotypes on Judgments about Rape

2016 ◽  
Vol 75 (3) ◽  
pp. 133-140
Author(s):  
Robert Busching ◽  
Johannes Lutz
Keyword(s):  
Mental Representations ◽  
Irrelevant Information ◽  
Clear Distinction ◽  
Rape Myth ◽  
Facial Features ◽  
Reverse Correlation ◽  
Correlation Technique ◽  
Specific Effects ◽  
Legal Judgments ◽  
The Impact

Abstract. Legally irrelevant information like facial features is used to form judgments about rape cases. Using a reverse-correlation technique, it is possible to visualize criminal stereotypes and test whether these representations influence judgments. In the first step, images of the stereotypical faces of a rapist, a thief, and a lifesaver were generated. These images showed a clear distinction between the lifesaver and the two criminal representations, but the criminal representations were rather similar. In the next step, the images were presented together with rape scenarios, and participants (N = 153) indicated the defendant’s level of liability. Participants with high rape myth acceptance scores attributed a lower level of liability to a defendant who resembled a stereotypical lifesaver. However, no specific effects of the image of the stereotypical rapist compared to the stereotypical thief were found. We discuss the findings with respect to the influence of visual stereotypes on legal judgments and the nature of these mental representations.

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