Literature DB >> 15107965

Occipital projections in the skeletal dysplasias.

Yuji Takamine1, Ralph S Lachman, Fiona M Field, David L Rimoin.   

Abstract

Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant.

Entities:  

Mesh:

Year:  2004        PMID: 15107965     DOI: 10.1007/s00247-004-1191-y

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


  7 in total

1.  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

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.  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

4.  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

Review 5.  Atelosteogenesis I and boomerang dysplasia: a question of nosology.

Authors:  A G Hunter; B F Carpenter
Journal:  Clin Genet       Date:  1991-06       Impact factor: 4.438

6.  Button osteoma: its etiology and pathophysiology.

Authors:  Vered Eshed; Bruce Latimer; Charles M Greenwald; Lyman M Jellema; Bruce M Rothschild; Susanne Wish-Baratz; Israel Hershkovitz
Journal:  Am J Phys Anthropol       Date:  2002-07       Impact factor: 2.868

7.  Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

Authors:  H J Stern; J M Graham; R S Lachman; W Horton; P M Bernini; P K Spiegel; J Bodurtha; E J Ives; M Bocian; D L Rimoin
Journal:  Am J Med Genet       Date:  1990-06
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.