Literature DB >> 24959018

Raine syndrome.

B Vishwanath1, K Srinivasa1, M Veera Shankar1.   

Abstract

Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. We report a baby who was 7 weeks old at the time of presentation.

Entities:  

Keywords:  Lethal; Raine syndrome; osteosclerosis

Year:  2014        PMID： 24959018      PMCID： PMC4065483          DOI： 10.4103/0971-6866.132761

Source DB:  PubMed          Journal:  Indian J Hum Genet        ISSN： 1998-362X


  8 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.  Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.

Authors:  A Ohlsson; W A Cumming; A Paul; W S Sly
Journal:  Pediatrics       Date:  1986-03       Impact factor: 7.124

3.  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

4.  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

5.  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

6.  Intracranial calcification in Raine syndrome.

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

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

8.  Carbonic anhydrase II deficiency a novel mutation.

Authors:  Sheela Nampoothiri; Yair Anikster
Journal:  Indian Pediatr       Date:  2009-06       Impact factor: 1.411
  8 in total
  3 in total

1.  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 2.  Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications.

Authors:  Rongsheng Xu; Huidan Tan; Jiahui Zhang; Zhaoxin Yuan; Qiang Xie; Lan Zhang
Journal:  Front Mol Biosci       Date:  2021-12-20

3.  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
  3 in total

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