Literature DB >> 22482388

Grebe syndrome: a rare association with congenital heart disease.

Jawad Jalil1, Mobeen Shafique.   

Abstract

Grebe syndrome is a very rare form of short-limbed dwarfism. It is a genetic condition, passed by autosomal recessive inheritance. It is characterized by marked acromesomelic shortening of all the four limbs. There are no other associated anomalies. The affected baby has normal intelligence and normal life span. We present here a case of Grebe syndrome along with congenital heart disease.

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Year:  2012        PMID: 22482388     DOI: 04.2012/JCPSP.261263

Source DB:  PubMed          Journal:  J Coll Physicians Surg Pak        ISSN: 1022-386X            Impact factor:   0.711


  1 in total

1.  Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Authors:  Sara Mumtaz; Hafiza Fizzah Riaz; Mohammad Touseef; Sulman Basit; Muhammad Faiyaz Ul Haque; Sajid Malik
Journal:  Pak J Med Sci       Date:  2015 Nov-Dec       Impact factor: 1.088

  1 in total

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