Literature DB >> 2020859

A new lethal sclerosing bone dysplasia.

H M Kingston1, J S Freeman, C M Hall.   

Abstract

A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology.

Entities:  

Mesh：

Year:  1991        PMID： 2020859     DOI： 10.1007/bf00193823

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  2 in total

1.  Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

Authors:  J Raine; R M Winter; A Davey; S M Tucker
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

2.  Lethal osteopetrosis with multiple fractures in utero.

Authors:  N el Khazen; D Faverly; E Vamos; N Van Regemorter; J Flament-Durand; B Carton; N Cremer-Perlmutter
Journal:  Am J Med Genet       Date:  1986-03
  2 in total
  9 in total

1.  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

2.  Intracranial calcification in Raine syndrome.

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

3.  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

4.  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

5.  Enamel and dentin in Enamel renal syndrome: A confocal Raman microscopy view.

Authors:  Alban Desoutter; Olivier Cases; Pierre Yves Collart Dutilleul; Victor Simancas Escorcia; Vidjea Cannaya; Frédéric Cuisinier; Renata Kozyraki
Journal:  Front Physiol       Date:  2022-08-25       Impact factor: 4.755

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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