Dubowitz syndrome

1998-02-01   Jean-Loup Huret  , Claude Léonard  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France

Identity

Name

Dubowitz syndrome

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

Omim

223370

Mesh

C535718

Orphanet

235 Dubowitz syndrome

Umls

C0175691

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 condition

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

    To be noted

    Associations

    http:\/\/www.dubowitz.org Dubowitz syndrome

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    87231211996Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.Tsukahara M et al