Literature DB >> 973772

[Kniest's disease, (a familial case)].

D Gnamey, J P Farriaux, G Fontaine.   

Abstract

Kniest's disease (spondylo-epiphyseal dysplasia) was recently described by Maroteaux and Spranger. A second familial case is studied. Transmission of the disease occurred as a dominant trait.

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Mesh：

Year:  1976        PMID： 973772

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


  2 in total

1.  Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Authors:  J Spranger; H Menger; S Mundlos; A Winterpacht; B Zabel
Journal:  Pediatr Radiol       Date:  1994

2.  Kniest disease with Pierre Robin syndrome and hydrocephalus.

Authors:  M Cirillo Silengo; G F Davi; R Bianco; A DeMarco; P Franceschini
Journal:  Pediatr Radiol       Date:  1983
  2 in total

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