Literature DB >> 6542309

Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome?

D B Pitt, J G Rogers, D M Danks.   

Abstract

We describe two mentally retarded sisters with intrauterine growth retardation and subsequent dwarfism and an unusual and characteristic face together with two other unrelated patients with similar manifestations. These four patients may represent a new autosomal recessive syndrome.

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Year:  1984        PMID: 6542309     DOI: 10.1002/ajmg.1320190213

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Authors:  S G Kant; A Van Haeringen; E Bakker; I Stec; D Donnai; P Mollevanger; G C Beverstock; M C Lindeman-Kusse; G J Van Ommen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Authors:  M W Partington; K Fagan; V Soubjaki; G Turner
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

  2 in total

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