Literature DB >> 112567

Humero-spinal dysostosis.

H Cortina, J Vidal, A Vallcanera, C Alberto, D Muro, F Dominguez.   

Abstract

A 2 year old boy with humero-spinal dysostosis is described. This is the third case of this disease reported in the literature. Humero-spinal dysostosis is characterised radiologically by distal humeral bifurcation, elbow subluxation and coronal cleft vertebrae. Congenital, progressive heart disease, possibly with fatal outcome, is probably part of the syndrome.

Entities:  

Mesh：

Year:  1979        PMID： 112567     DOI： 10.1007/bf00973833

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


  4 in total

1.  Coronal cleft vertebrae and persistent notochordal derivatives of infancy.

Authors:  D G WOLLIN; G B ELLIOTT
Journal:  J Can Assoc Radiol       Date:  1961-09

2.  A significant variant in the ossification centers of the vertebral bodies.

Authors:  J COHEN; G CURRARINO; E B NEUHAUSER
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1956-09

3.  The Weissenbacter-Zweymuller syndrome. A case report with review of the world literatue.

Authors:  H Cortina; R Aparici; J Beltran; C Alberto
Journal:  Pediatr Radiol       Date:  1977-09-01

4.  Humero-spinal dysostosis with congenital heart disease.

Authors:  K S Kozlowski; J M Celermajer; A R Tink
Journal:  Am J Dis Child       Date:  1974-03
  4 in total
  1 in total

1.  Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Authors:  Pia Hermanns; Sheila Unger; Antonio Rossi; Antonio Perez-Aytes; Hector Cortina; Luisa Bonafé; Loredana Boccone; Valeria Setzu; Michel Dutoit; Luca Sangiorgi; Fabio Pecora; Kerstin Reicherter; Gen Nishimura; Jürgen Spranger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025
  1 in total

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