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Dubowitz syndrome

Written1998-02Jean-Loup Huret, Claude Léonard
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France

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Identity

Atlas_Id 10016
Genes implicated inACTB  
Note Dubowitz syndrome may be confused with Bloom syndrome; another differential diagnosis is fetal alcohol syndrome
Inheritance autosomal recessive; heterogeneity cannot be excluded; less than 150 cases described

Clinics

Note phenotypic spectrum variable
Phenotype and clinics
  • growth: from normal to severe retardation; intrauterine growth retardation is frequent; birth weight: 2.3 kg; length: 45 cm; cranial perimeter: 30 cm; delayed bone age.
  • head: microcephaly; high forehead; sparse hair; broad nose; epicanthus; hypertelorism; blepharophimosis; microretrognathia.
  • skin: eczema, a classical sign, may be absent.
  • congenital heart defects in 10%; other malformations: ocular, dental, skeletal, urogenital in male patients; frequent infections.
  • mental retardation in 30-70 % of cases (from normal in 30% to severe retardation in 10%); siezures in 10%high-pitched voice; behaviour problems in 40%; most patients are 'hyperactive, shy, like music'.
  • Neoplastic risk haematological malignancies and pancytopenia in 10%, childhood myelodysplasia in particular; lymphomas

    Cytogenetics

    Inborn conditions appears to be normal or near to normal in most cases, although an increased rate of chromosomal breakage has also been descibed

    Bibliography

    Syndromes of the head and neck.
    Gorlin RJ, Cohen MM, Levin LS
    Oxford Monogr Med Genet. 1990 ; 19 : 304-306.
     
    Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.
    Tsukahara M, Opitz JM
    American journal of medical genetics. 1996 ; 63 (1) : 277-289.
    PMID 8723121
     

    Citation

    This paper should be referenced as such :
    Huret, JL ; Léonard, C
    Dubowitz syndrome
    Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):67-67.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/DUBID10016.html


    External links

    OMIM223370
    OrphanetDubowitz syndrome
    MeSHC535718  
    MedGenC535718  
    UMLSC0175691  
    ICD-10Q87.1  
    AssociationDubowitz syndrome
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed


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    indexed on : Mon Sep 18 17:20:38 CEST 2017


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