Literature DB >> 890106

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.

G Romeo, J Zonana, R S Lachman, J M Opitz, C I Scott, J W Spranger, D L Rimoin.   

Abstract

We have studied three patients with severe short-limbed dwarfism, only one of whom had the typical features of Grebe disease, whereas the other two had clearly distinct previously unreported skeletal dysplasias. Unlike the patients with Grebe disease, the latter two patients had involvement of the spine and particularly short humeri. The malformations of the hands and lower limbs were different in each of the three patients.

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Year:  1977        PMID: 890106

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  3 in total

1.  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

2.  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

3.  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

  3 in total

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