Number of the records: 1  

de Langeovej syndróm

  1. Subject h.de Langeovej syndróm
    Subject h.De Lange Syndrome
    Entry termsBrachmannov-de Langeovej syndróm
    syndróm Cornelie de Langeovej
    English X referencesBrachmann-De Lange Syndrome
    Cornelia De Lange Syndrome
    Scope note in EnglishA syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
    See also reference (FX) in Slovak postihnutie intelektuálne
    See also reference (FX) in English Intellectual Disability
    Links (1) - ARTICLES
    (1) - MeSH descriptor
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.