Literature DB >> 21076826

Raine syndrome: expanding the radiological spectrum.

Mériam Koob1, Bérénice Doray, Mélanie Fradin, Dominique Astruc, Jean-Louis Dietemann.   

Abstract

We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology.

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Year:  2010        PMID: 21076826     DOI: 10.1007/s00247-010-1875-4

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


  7 in total

1.  Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.

Authors:  J M Levaillant; D Moeglin; K Zouiten; M Bucourt; L Burglen; V Soupre; C Baumann; M L Jaquemont; R Touraine; A Picard; E Vuillard; N Belarbi; J F Oury; A Verloes; M P Vazquez; P Labrune; A L Delezoide; M Gérard-Blanluet
Journal:  Prenat Diagn       Date:  2009-02       Impact factor: 3.050

2.  Neuropathology of Raine syndrome.

Authors:  Christian H Rickert; Harald Rieder; Helga Rehder; Georg Hülskamp; Isabel Hörnig-Franz; Frank Louwen; Werner Paulus
Journal:  Acta Neuropathol       Date:  2001-12-05       Impact factor: 17.088

3.  Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency.

Authors:  Jessica Jaillet; Elisabeth Robert-Gnansia; Marianne Till; Christine Vinciguerra; Patrick Edery
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2005-03

Review 4.  Intracranial calcification in Raine syndrome: radiological pathological correlation.

Authors:  K al-Mane; F al-Dayel; P McDonald
Journal:  Pediatr Radiol       Date:  1998-11

5.  Further delineation of Raine syndrome.

Authors:  L I Al-Gazali; K Jehier; B Nazih; F Abtin; D Haas; R Sadagahatian
Journal:  Clin Dysmorphol       Date:  2003-04       Impact factor: 0.816

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

Authors:  David Chitayat; Patrick Shannon; Sarah Keating; Ants Toi; Susan Blaser; Tami Friedberg; Andrea Superti-Furga; Karen Chong; Sheila Unger
Journal:  Am J Med Genet A       Date:  2007-12-15       Impact factor: 2.802

7.  Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Authors:  M A Simpson; A Scheuerle; J Hurst; M A Patton; H Stewart; A H Crosby
Journal:  Clin Genet       Date:  2009-03       Impact factor: 4.438

  7 in total
  6 in total

1.  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

2.  Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients' Dental Management.

Authors:  Lorna Hirst; Gehan Abou-Ameira; Simon Critchlow
Journal:  Case Rep Pediatr       Date:  2021-01-07

Review 3.  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

4.  Ancestral roles of the Fam20C family of secreted protein kinases revealed in C. elegans.

Authors:  Adina Gerson-Gurwitz; Carolyn A Worby; Kian-Yong Lee; Renat Khaliullin; Jeff Bouffard; Dhanya Cheerambathur; Karen Oegema; Erin J Cram; Jack E Dixon; Arshad Desai
Journal:  J Cell Biol       Date:  2019-09-20       Impact factor: 10.539

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.  From biomineralization to tumorogenesis-the expanding insight of the physiological and pathological roles of Fam20C.

Authors:  Yanbing Wu; Haoru Wang; Chao Liu
Journal:  Biosci Rep       Date:  2021-05-28       Impact factor: 3.840

  6 in total

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