Literature DB >> 3562108

Atelosteogenesis: evidence for heterogeneity.

D O Sillence, K Kozlowski, J G Rogers, P L Sprague, G J Cullity, R A Osborn.   

Abstract

Four cases of neonatal death dwarfism resembling atelosteogenesis but with some distinctive radiographic and characteristic histopathologic features are reported. The name atelosteogenesis II is proposed for this entity.

Entities:  

Mesh：

Year:  1987        PMID： 3562108     DOI： 10.1007/BF02388086

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


  7 in total

1.  New forms of neonatal death dwarfism. Report of 3 cases.

Authors:  K Kozlowski; T Tsuruta; Y Kameda; A Kan; G Leslie
Journal:  Pediatr Radiol       Date:  1981-02

2.  Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia.

Authors:  D O Sillence; R S Lachman; T Jenkins; V M Riccardi; D L Rimoin
Journal:  Am J Med Genet       Date:  1982-09

3.  A new neonatal short limbed dwarfism.

Authors:  W H McAlister; J P Crane; R P Bucy; R B Craig
Journal:  Skeletal Radiol       Date:  1985       Impact factor: 2.199

4.  Atelosteogenesis.

Authors:  P Maroteaux; J Spranger; V Stanescu; B Le Marec; R A Pfeiffer; P Beighton; J F Mattei
Journal:  Am J Med Genet       Date:  1982-09

5.  Atelosteogenesis.

Authors:  K Kozlowski; E M Bateson
Journal:  Rofo       Date:  1984-02

6.  Two lethal chondrodysplasias with giant chondrocytes.

Authors:  S S Yang; J Roskamp; C T Liu; R Frates; D B Singer
Journal:  Am J Med Genet       Date:  1983-08

7.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307
  7 in total
  5 in total

Review 1.  Atelosteogenesis type 2.

Authors:  R Newbury-Ecob
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

2.  Occipital projections in the skeletal dysplasias.

Authors:  Yuji Takamine; Ralph S Lachman; Fiona M Field; David L Rimoin
Journal:  Pediatr Radiol       Date:  2004-04-24

3.  A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Authors:  L Bonafé; J Hästbacka; A de la Chapelle; A B Campos-Xavier; C Chiesa; A Forlino; A Superti-Furga; A Rossi
Journal:  J Med Genet       Date:  2008-08-15       Impact factor: 6.318

4.  Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Authors:  J Hästbacka; A Superti-Furga; W R Wilcox; D L Rimoin; D H Cohn; E S Lander
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

5.  Atelosteogenesis type III: a case report.

Authors:  M J Fallon; A Hockey; L A Hallam
Journal:  Pediatr Radiol       Date:  1994
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.