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achondroplázia

  1. Subject h.achondroplázia
    Subject h.Achondroplasia
    Entry termsachondroplázia ťažká, s oneskorením vývinu a s acanthosis nigricans
    SADDAN dysplázia
    English X referencesSevere Achondroplasia with Developmental Delay and Acanthosis Nigricans
    Scope note in EnglishAn autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
    See also reference (FX) in Slovak receptor fibroblastového rastového faktora, typ 3
    See also reference (FX) in English Receptor, Fibroblast Growth Factor, Type 3
    Links (12) - ARTICLES
    (1) - MeSH descriptor
    (1) - CiBaMed
    (3) - BOOKS
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Number of the records: 1  

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