Literature DB >> 7469709

[A syndrome of congenital diabetes with disordered epiphyseal growth with autosomal recessive inheritance (author's transl)].

P Goumy, P Maroteaux, V Stanescu, R Stanescu, A Labbe, G Menut.   

Abstract

A child is described with insulin dependent diabetes of neonatal onset and a disorder of endochondral growth. Radiological and histological bone appearances differ from those observed in other types of chondrodysplasia. The association of diabetes and chondrodysplasia is not likely to occur by chance but is probably a genuine clinical entity. The condition is probably inherited as a autosomal recessive and its possible pathogenesis is discussed.

Entities:  

Mesh:

Year:  1980        PMID: 7469709

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  8 in total

1.  Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.

Authors:  D T Bonthron; N Dunlop; D G Barr; A A El Sanousi; L I Al-Gazali
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

2.  Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Authors:  Oscar Rubio-Cabezas; Ann-Marie Patch; Jayne A L Minton; Sarah E Flanagan; Emma L Edghill; Khalid Hussain; Amina Balafrej; Asma Deeb; Charles R Buchanan; Ian G Jefferson; Angham Mutair; Andrew T Hattersley; Sian Ellard
Journal:  J Clin Endocrinol Metab       Date:  2009-10-16       Impact factor: 5.958

Review 3.  Wolcott-Rallison syndrome.

Authors:  Cécile Julier; Marc Nicolino
Journal:  Orphanet J Rare Dis       Date:  2010-11-04       Impact factor: 4.123

4.  Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia.

Authors:  D Blum; H Dorchy; T Mouraux; E Vamos; Y Mardens; A Kumps; C De Prez; P Heimann; B Fowler; R Baumgartner
Journal:  Diabetologia       Date:  1993-04       Impact factor: 10.122

5.  Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.

Authors:  H Stöss; H J Pesch; B Pontz; A Otten; J Spranger
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

6.  Structural changes of collagen fibrils in skeletal dysplasias. Ultrastructural findings in the iliac crest.

Authors:  H Stöss; H J Pesch
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985

Review 7.  Wolcott-Rallison syndrome in a Bedouin boy.

Authors:  Makia J Marafie; Mary A Redha; Rezk L Al-Naggar
Journal:  Ann Saudi Med       Date:  2004 Nov-Dec       Impact factor: 1.526

Review 8.  Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.

Authors:  Abdelhadi M Habeb
Journal:  Libyan J Med       Date:  2013-06-10       Impact factor: 1.743

  8 in total

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