Literature DB >> 12995812

[Differential diagnosis between dysostosis enchondralis and chondrodystrophy].

W KNIEST.   

Abstract

Entities:  

Keywords:  DYSCHONDROPLASIA/diagnosis

Mesh：

Year:  1952        PMID： 12995812

Source DB:  PubMed          Journal:  Z Kinderheilkd        ISSN： 0044-2917


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  16 in total

1.  Kniest syndrome with dominant inheritance and mucopolysacchariduria.

Authors:  H J Kim; N G Beratis; P Brill; E Raab; K Hirschhorn; R Matalon
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

2.  [Polytope hereditary enchondral dysostosis].

Authors:  W HOCHHEIM; H KORNER; S LIEBE
Journal:  Arch Orthop Unfallchir       Date:  1955

Review 3.  Platyspondyly in childhood.

Authors:  K Kozlowski
Journal:  Pediatr Radiol       Date:  1974

4.  The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

Authors:  A Winterpacht; A Superti-Furga; U Schwarze; H Stöss; B Steinmann; J Spranger; B Zabel
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

5.  Dysplasia spondyloepiphysaria congenita and related generalized skeletal dysplasias among children with severe visual handicaps.

Authors:  G R Fraser; A I Friedmann; P Maroteaux; A M Glen-Bott; U Mittwoch
Journal:  Arch Dis Child       Date:  1969-08       Impact factor: 3.791

6.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

7.  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

8.  MR demonstrates cartilaginous megaepiphyses of the hips in Kniest dysplasia of the young child.

Authors:  A E Oestreich; E C Prenger
Journal:  Pediatr Radiol       Date:  1992

9.  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

10.  A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?

Authors:  T I Farag; S A Al-Awadi; M C Hunt; S Satyanath; M Zahran; R Usha; R Uma
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318
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