Literature DB >> 6468443

Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome.

J P Fryns, A van Fleteren, P Mattelaer, H van den Berghe.   

Abstract

A 13-year-old slightly mentally retarded female is reported with diffuse calcification of the cartilage, brachytelephalangy, mixed hearing loss and peripheral pulmonary stenosis. The present observation confirms the existence of the Keutel syndrome as a distinct syndrome, with probable autosomal recessive inheritance.

Entities:  

Mesh：

Year:  1984        PMID： 6468443     DOI： 10.1007/bf00442449

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

1.  Keutel syndrome: a report of four cases.

Authors:  H E Khosroshahi; O Uluoğlu; R Olguntürk; C Başaklar
Journal:  Eur J Pediatr       Date:  1989-12       Impact factor: 3.183

2.  Brachydactyly type C associated with shortening of the hallux.

Authors:  J M Rowe-Jones; A L Moss; M A Patton
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

Review 3.  Mechanism of Bone Mineralization.

Authors:  Monzur Murshed
Journal:  Cold Spring Harb Perspect Med       Date:  2018-12-03       Impact factor: 6.915

Review 4.  Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.

Authors:  Stephen F Miller
Journal:  Pediatr Radiol       Date:  2002-12-19

5.  Tracheobronchial calcifications in children.

Authors:  Lauren P Golding; Michael J Walsh; Thomas E Sumner; Thomas A Nakagawa
Journal:  Pediatr Radiol       Date:  2013-04-25

6.  Trisomy 10qter confirmed by in situ hybridisation.

Authors:  V Briscioli; G Floridia; E Rossi; A Selicorni; F Lalatta; O Zuffardi
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

Review 7.  The Keutel syndrome. Report of a case and review of the literature.

Authors:  F Ziereisen; C De Munter; N Perlmutter
Journal:  Pediatr Radiol       Date:  1993

Review 8.  From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.

Authors:  Eva Yg De Vilder; Olivier M Vanakker
Journal:  World J Clin Cases       Date:  2015-07-16       Impact factor: 1.337

9.  Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation.

Authors:  Caitlin O'Rourke; Georgia Shelton; Joshua D Hutcheson; Megan F Burke; Trejeeve Martyn; Timothy E Thayer; Hannah R Shakartzi; Mary D Buswell; Robert E Tainsh; Binglan Yu; Aranya Bagchi; David K Rhee; Connie Wu; Matthias Derwall; Emmanuel S Buys; Paul B Yu; Kenneth D Bloch; Elena Aikawa; Donald B Bloch; Rajeev Malhotra
Journal:  J Vis Exp       Date:  2016-05-31       Impact factor: 1.355

Review 10.  GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

Authors:  Eva Y G De Vilder; Jens Debacker; Olivier M Vanakker
Journal:  Int J Mol Sci       Date:  2017-01-25       Impact factor: 5.923
  10 in total

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