scholarly journals Keutel syndrome

2020 ◽  
Author(s):  
Rohit Sharma ◽  
Yuranga Weerakkody
Keyword(s):  
2006 ◽  
Vol 140A (13) ◽  
pp. 1487-1489 ◽  
Author(s):  
Arti Nanda ◽  
Jehoram T. Anim ◽  
Meshal Al-Gareeb ◽  
Qasem A. Alsaleh

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.


2014 ◽  
Vol 164 (11) ◽  
pp. 2849-2856 ◽  
Author(s):  
H.E. Khosroshahi ◽  
S.C. Sahin ◽  
Y. Akyuz ◽  
H. Ede

Author(s):  
Ahmad S. Teebi ◽  
Deborah M. Lambert ◽  
Glenn M. Kaye ◽  
Sulaiman Al-Fifi ◽  
Ted L. Tewfik ◽  
...  
Keyword(s):  

2019 ◽  
Vol 20 (9) ◽  
pp. 2142
Author(s):  
Lukas Nollet ◽  
Matthias Van Gils ◽  
Shana Verschuere ◽  
Olivier Vanakker

Ectopic mineralization disorders comprise a broad spectrum of inherited or acquired diseases characterized by aberrant deposition of calcium crystals in multiple organs, such as the skin, eyes, kidneys, and blood vessels. Although the precise mechanisms leading to ectopic calcification are still incompletely known to date, various molecular targets leading to a disturbed balance between pro- and anti-mineralizing pathways have been identified in recent years. Vitamin K and its related compounds, mainly those post-translationally activated by vitamin K-dependent carboxylation, may play an important role in the pathogenesis of ectopic mineralization as has been demonstrated in studies on rare Mendelian diseases, but also on highly prevalent disorders, like vascular calcification. This narrative review compiles and summarizes the current knowledge regarding the role of vitamin K, its metabolism, and associated compounds in the pathophysiology of both monogenic ectopic mineralization disorders, like pseudoxanthoma elasticum or Keutel syndrome, as well as acquired multifactorial diseases, like chronic kidney disease. Clinical and molecular aspects of the various disorders are discussed according to the state-of-the-art, followed by a comprehensive literature review regarding the role of vitamin K in molecular pathophysiology and as a therapeutic target in both human and animal models of ectopic mineralization disorders.


Author(s):  
Pilar Caro Aguilera ◽  
Yazmina Martínez García ◽  
Inmaculada Gómez Garrido ◽  
Javier Pérez Frías ◽  
Estela Pérez Ruiz
Keyword(s):  

1986 ◽  
Vol 24 (2) ◽  
pp. 289-294 ◽  
Author(s):  
Edward J. Cormode ◽  
Malcolm Dawson ◽  
R. Brian Lowry ◽  
John M. Opitz ◽  
James F. Reynolds

2013 ◽  
Vol 44 (1) ◽  
pp. 73-78 ◽  
Author(s):  
Thangamadhan Bosemani ◽  
Ryan J. Felling ◽  
Emily Wyse ◽  
Monica S. Pearl ◽  
Aylin Tekes ◽  
...  
Keyword(s):  

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