Literature DB >> 6705242

Grebe chondrodysplasia and brachydactyly in a family.

D Kumar, D Curtis, C E Blank.   

Abstract

A family is reported in which various skeletal abnormalities have been segregating over three generations. The Great-grandfather (11) of the consultand had features consistent with Grebe chondrodysplasia. The other members of the family have brachydactyly, radiologically characterised by short first metacarpals and short middle phalanges of the index and little fingers. The possibility of association of familial brachydactyly and Grebe chondrodysplasia is discussed. An attempt has been made to deal with the genetic counselling problem in this particular family.

Entities:  

Mesh:

Year:  1984        PMID: 6705242     DOI: 10.1111/j.1399-0004.1984.tb00465.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

1.  Grebe syndrome: a very severely affected case.

Authors:  M L Kulkarni; B Kumar; A Nasser; B M Kulkarni
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

Review 2.  Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Authors:  A Raas-Rothschild; R M Goodman; S Meyer; M B Katznelson; S T Winter; E Gross; M Tamarkin; T Ben-Ami; L Nebel; S Mashiach
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

3.  A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.

Authors:  L O Langer; J Cervenka; M Camargo
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

4.  Severe short-limb dwarfism resembling Grebe chondrodysplasia.

Authors:  A S Teebi; S A Al-Awadi; J M Opitz; J Spranger
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

5.  Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.

Authors:  Muhammad Faiyaz-Ul-Haque; Eissa A Faqeih; Hamad Al-Zaidan; Amal Al-Shammary; Syed H E Zaidi
Journal:  J Bone Miner Metab       Date:  2008-11-01       Impact factor: 2.626

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.