scholarly journals Keutel syndrome

2020 ◽  
Author(s):  
Rohit Sharma ◽  
Yuranga Weerakkody
Keyword(s):  
Keutel Syndrome

Keutel syndrome with overlapping features of cutis laxa: A new variant

2006 ◽  
Vol 140A (13) ◽  
pp. 1487-1489 ◽  
Author(s):  
Arti Nanda ◽  
Jehoram T. Anim ◽  
Meshal Al-Gareeb ◽  
Qasem A. Alsaleh
Keyword(s):  
Cutis Laxa ◽  
Keutel Syndrome ◽  
New Variant

Punctate Calcification Group

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Chondrodysplasia Punctata ◽  
Limb Defects ◽  
Dominant Type ◽  
Radiographic Features ◽  
Keutel Syndrome ◽  
Punctate Calcification ◽  
Autosomal Dominant Type

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.

scholarly journals Long term follow‐up of four patients with Keutel syndrome

2014 ◽  
Vol 164 (11) ◽  
pp. 2849-2856 ◽  
Author(s):  
H.E. Khosroshahi ◽  
S.C. Sahin ◽  
Y. Akyuz ◽  
H. Ede
Keyword(s):  
Keutel Syndrome ◽  
Long Term Follow Up

Keutel syndrome: Further characterization and review

1998 ◽  
Vol 78 (2) ◽  
pp. 182-187 ◽  
Author(s):  
Ahmad S. Teebi ◽  
Deborah M. Lambert ◽  
Glenn M. Kaye ◽  
Sulaiman Al-Fifi ◽  
Ted L. Tewfik ◽  
...  
Keyword(s):  
Keutel Syndrome

scholarly journals The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders

2019 ◽  
Vol 20 (9) ◽  
pp. 2142
Author(s):  
Lukas Nollet ◽  
Matthias Van Gils ◽  
Shana Verschuere ◽  
Olivier Vanakker
Keyword(s):  
Vitamin K ◽  
Current Knowledge ◽  
Pseudoxanthoma Elasticum ◽  
Ectopic Calcification ◽  
Multifactorial Diseases ◽  
Multiple Organs ◽  
Keutel Syndrome ◽  
Ectopic Mineralization ◽  
Related Compounds

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.

Trachea stenosis in Keutel syndrome

2020 ◽  
Author(s):  
Pilar Caro Aguilera ◽  
Yazmina Martínez García ◽  
Inmaculada Gómez Garrido ◽  
Javier Pérez Frías ◽  
Estela Pérez Ruiz
Keyword(s):  
Keutel Syndrome

Keutel syndrome: Clinical report and literature review

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

Neuroimaging findings in children with Keutel syndrome

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