Literature DB >> 4001969

A new neonatal short limbed dwarfism.

W H McAlister, J P Crane, R P Bucy, R B Craig.   

Abstract

Two siblings with the same short limbed neonatal dwarfism are reported. The patients died from pulmonary hypoplasia.

Entities:  

Mesh：

Year:  1985        PMID： 4001969     DOI： 10.1007/bf00355348

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


  3 in total

1.  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

2.  Achondrogenesis: new nosology with evidence of genetic heterogeneity.

Authors:  C B Whitley; R J Gorlin
Journal:  Radiology       Date:  1983-09       Impact factor: 11.105

3.  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
  3 in total
  4 in total

Review 1.  FGFR3-related dwarfism and cell signaling.

Authors:  Daisuke Harada; Yoshitaka Yamanaka; Koso Ueda; Hiroyuki Tanaka; Yoshiki Seino
Journal:  J Bone Miner Metab       Date:  2008-12-09       Impact factor: 2.626

2.  Atelosteogenesis: evidence for heterogeneity.

Authors:  D O Sillence; K Kozlowski; J G Rogers; P L Sprague; G J Cullity; R A Osborn
Journal:  Pediatr Radiol       Date:  1987

Review 3.  Atelosteogenesis type 2.

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

Review 4.  Skeletal Dysplasias Caused by Sulfation Defects.

Authors:  Chiara Paganini; Chiara Gramegna Tota; Andrea Superti-Furga; Antonio Rossi
Journal:  Int J Mol Sci       Date:  2020-04-14       Impact factor: 5.923
  4 in total

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