Literature DB >> 2327863

[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III].

P Maroteaux1, J Badoual.   

Abstract

The authors describe a case of microcephalic dwarfism observed in a newborn until 10 months of age and discuss the diagnostic challenge. They show that the Taybi-Linder syndrome and the primordial dwarfism type I and type III of Majewski are an identical recessive autosomal entity. The radiological evolution explains the initial separation of type I and type III. Because of the skeletal lesions, lacking in the Seckel syndrome, the name of sublethal microcephalic chondrodysplasia is proposed for this disease.

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Year:  1990        PMID: 2327863

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


  2 in total

1.  Cephalo-skeletal dysplasia and microcephalic osteodysplastic primordial dwarfism.

Authors:  H Taybi
Journal:  Pediatr Radiol       Date:  1992

2.  Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Authors:  R Nagy; H Wang; B Albrecht; D Wieczorek; G Gillessen-Kaesbach; E Haan; P Meinecke; A de la Chapelle; J A Westman
Journal:  Clin Genet       Date:  2011-08-28       Impact factor: 4.438

  2 in total

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