Number of the records: 1  

Langerov-Giedionov syndróm

  1. Subject h.Langerov-Giedionov syndróm
    Subject h.Langer-Giedion Syndrome
    Entry termsakrodysplázia typu V
    akrodysplázia, typ V
    Giedionov-Langerov syndróm
    syndróm tricho-rino-falangeálny typu II
    syndróm tricho-rino-falangeálny, typ II
    dysplázia tricho-rino-falangeálna II
    English X referencesAcrodysplasia V
    Giedion-Langer Syndrome
    Trichorhinophalangeal Syndrome Type II
    Scope note in EnglishAutosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
    Links (4) - ARTICLES
    (1) - CiBaMed
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Number of the records: 1  

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