Literature DB >> 1642277

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

A E Kan1, K Kozlowski.   

Abstract

We report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofacial anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder.

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Year:  1992        PMID: 1642277     DOI: 10.1002/ajmg.1320430522

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Authors:  Anna Rajab; Kimberly A Aldinger; Hisham Ali El-Shirbini; William B Dobyns; M Elizabeth Ross
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

2.  Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Authors:  M A Simpson; R Hsu; L S Keir; J Hao; G Sivapalan; L M Ernst; E H Zackai; L I Al-Gazali; G Hulskamp; H M Kingston; T E Prescott; A Ion; M A Patton; V Murday; A George; A H Crosby
Journal:  Am J Hum Genet       Date:  2007-09-14       Impact factor: 11.025

3.  Intracranial calcification in Raine syndrome.

Authors:  K A Al Mane; R K Coates; P McDonald
Journal:  Pediatr Radiol       Date:  1996

4.  Molecular Cloning of Mouse Homologue of Enamel Protein C4orf26 and Its Phosphorylation by FAM20C.

Authors:  Nattanan Govitvattana; Masaru Kaku; Yoshio Ohyama; Haytham Jaha; I-Ping Lin; Hanna Mochida; Prasit Pavasant; Yoshiyuki Mochida
Journal:  Calcif Tissue Int       Date:  2021-04-22       Impact factor: 4.000

5.  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 6.  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

7.  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

8.  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

9.  Natural history of non-lethal Raine syndrome during childhood.

Authors:  Chiara Mameli; Giulia Zichichi; Nasim Mahmood; Siham Chafai Elalaoui; Adnan Mirza; Poonam Dharmaraj; Marco Burrone; Elisa Cattaneo; Jayesh Sheth; Ajit Gandhi; Gurpreet Singh Kochar; Fowzan Sami Alkuraya; Madhulika Kabra; Giuseppe Mercurio; Gianvincenzo Zuccotti
Journal:  Orphanet J Rare Dis       Date:  2020-04-16       Impact factor: 4.123

  9 in total

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