scholarly journals Short-Limb Skeletal Dysplasias: Evaluation of the Fetal Spine with Sonography and Radiography

1990 ◽  
Vol 6 (3) ◽  
pp. 181-181
Radiology ◽  
1990 ◽  
Vol 174 (1) ◽  
pp. 177-180 ◽  
Author(s):  
G A Rouse ◽  
R A Filly ◽  
F Toomey ◽  
G L Grube

2018 ◽  
pp. 157-244
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  

This chapter further discusses bone dysplasias and explores achondrogenesis type 1A, odontochondrodysplasia, Schneckenbecken dysplasia, opsismodysplasia, spondylometaphyseal dysplasia (Sedaghatian type), spondyloenchondrodysplasia, SEMD (PAPSS2 type) and brachyolmia (autosomal recessive type), Dyggve-Melchior-Clausen dysplasia, spondylometaepiphyseal dysplasia (short limb-abnormal calcification type), spondylometaphyseal dysplasia with cone-rod dystrophy, dyssegmental dysplasia, Schwartz-Jampel syndrome, spondyloepiphyseal dysplasia tarda (X-linked), aggrecan-associated skeletal dysplasias, Wolcott-Rallison syndrome, Schimke immunoosseous dysplasia, progressive pseudorheumatoid chondrodysplasia, spondylometaphyseal dysplasia (corner fracture type), sponastrime dysplasia, CODAS syndrome, N-acetyl-neuraminic acid synthase (NANS) deficiency, and spondylo-epi-metaphyseal dysplasia with immune deficiency and developmental disability (EXTL3-deficient type). Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.


2021 ◽  
Vol 132 ◽  
pp. S221-S222
Author(s):  
Alicia Scocchia ◽  
Tiia Kangas-Kontio ◽  
Liisa Pelttari ◽  
Kim Gall ◽  
Inka Saarinen ◽  
...  

Author(s):  
Denise P. Cavalcanti ◽  
Virginia Fano ◽  
Cecilia Mellado ◽  
Maria Dora J. Lacarrubba‐Flores ◽  
Cynthia Silveira ◽  
...  

2011 ◽  
pp. 292-322
Author(s):  
Keith A. Kronemer ◽  
Thomas E. Herman
Keyword(s):  

1998 ◽  
Vol 28 (10) ◽  
pp. 764-770 ◽  
Author(s):  
J. Westvik ◽  
Ralph S. Lachman
Keyword(s):  

1996 ◽  
Vol 26 (3) ◽  
pp. 171-178 ◽  
Author(s):  
E. F. Avni ◽  
F. Rypens ◽  
M. Zappa ◽  
C. Donner ◽  
N. Vanregemorter ◽  
...  

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