Literature DB >> 8598998

Intracranial calcification in Raine syndrome.

K A Al Mane1, R K Coates, P McDonald.   

Abstract

We report the fourth case of a patient recognised with Raine syndrome, a distinct lethal sclerosing bone dysplasia, and we describe the association with intracranial calcification demonstrable by ultrasound and CT.

Entities:  

Mesh：

Year:  1996        PMID： 8598998     DOI： 10.1007/bf01403707

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


  6 in total

1.  A new lethal sclerosing bone dysplasia.

Authors:  H M Kingston; J S Freeman; C M Hall
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

2.  New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

Authors:  A E Kan; K Kozlowski
Journal:  Am J Med Genet       Date:  1992-07-15

3.  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

4.  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

5.  Echogenic vasculature in the basal ganglia of neonates: a sonographic sign of vasculopathy.

Authors:  R L Teele; M Hernanz-Schulman; A Sotrel
Journal:  Radiology       Date:  1988-11       Impact factor: 11.105

6.  Osteopetrosis: brain ultrasound and computed tomography findings.

Authors:  P J Patel; T M Kolawole; S al-Mofada; T M Malabarey; A Hulailah
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183
  6 in total
  7 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.  Raine syndrome.

Authors:  B Vishwanath; K Srinivasa; M Veera Shankar
Journal:  Indian J Hum Genet       Date:  2014-01

3.  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

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

Review 5.  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

6.  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

7.  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
  7 in total

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