Literature DB >> 9799309

Intracranial calcification in Raine syndrome: radiological pathological correlation.

K al-Mane1, F al-Dayel, P McDonald.   

Abstract

We report the seventh known patient with Raine syndrome, a recently recognised, lethal sclerosing bone dysplasia associated with severe craniofacial dysmorphism and intracranial calcification in whom the CT findings are correlated with the gross and microscopic abnormalities found in the brain at autopsy.

Entities:  

Mesh：

Year:  1998        PMID： 9799309     DOI： 10.1007/s002470050473

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  6 in total

1.  Raine syndrome: expanding the radiological spectrum.

Authors:  Mériam Koob; Bérénice Doray; Mélanie Fradin; Dominique Astruc; Jean-Louis Dietemann
Journal:  Pediatr Radiol       Date:  2010-11-13

2.  High-Phosphate Diet Improved the Skeletal Development of Fam20c-Deficient Mice.

Authors:  Hua Zhang; Lili Li; Matthew J Kesterke; Yongbo Lu; Chunlin Qin
Journal:  Cells Tissues Organs       Date:  2020-02-26       Impact factor: 2.481

3.  Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Authors:  Ana Carolina Acevedo; James A Poulter; Priscila Gomes Alves; Caroline Lourenço de Lima; Luiz Claudio Castro; Paulo Marcio Yamaguti; Lilian M Paula; David A Parry; Clare V Logan; Claire E L Smith; Colin A Johnson; Chris F Inglehearn; Alan J Mighell
Journal:  BMC Med Genet       Date:  2015-02-21       Impact factor: 2.103

Review 4.  A case of Raine syndrome presenting with facial dysmorphy and review of literature.

Authors:  Jayesh Sheth; Riddhi Bhavsar; Ajit Gandhi; Frenny Sheth; Dhairya Pancholi
Journal:  BMC Med Genet       Date:  2018-05-11       Impact factor: 2.103

5.  Two Novel FAM20C Variants in A Family with Raine Syndrome.

Authors:  Araceli Hernández-Zavala; Fernando Cortés-Camacho; Icela Palma Lara; Ricardo Godinez-Aguilar; Ana María Espinosa-García; Javier Pérez-Durán; Patricia Villanueva-Ocampo; Carlos Ugarte-Briones; Carlos Alberto Serrano-Bello; Paula Sanchez-Santiago; José Bonilla-Delgado; Marco Antonio Yañez-López; Georgina Victoria-Acosta; Adolfo López-Ornelas; Patricia García Alonso-Themann; José Moreno; Carmen Palacios-Reyes
Journal:  Genes (Basel)       Date:  2020-02-20       Impact factor: 4.096

6.  A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Authors:  Mehmet Eltan; Ceren Alavanda; Zehra Yavas Abali; Pinar Ergenekon; Nilufer Yalındag Ozturk; Mustafa Sakar; Adnan Dagcinar; Tarik Kirkgoz; Sare Betul Kaygusuz; Yasemin Gokdemir; Huriye Nursel Elcioglu; Tulay Guran; Abdullah Bereket; Pinar Ata; Serap Turan
Journal:  Calcif Tissue Int       Date:  2020-04-27       Impact factor: 4.333
  6 in total

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