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syndróm branchiootorenálny

  1. Subject h.syndróm branchiootorenálny
    Subject h.Branchio-Oto-Renal Syndrome
    Entry termssyndróm žiabrovo-ušno-obličkový
    BOR syndróm
    dysplázia branchiootorenálna
    syndróm branchio-oto-renálny
    syndróm branchiookulofaciálny
    English X referencesBOR Syndrome
    Branchio-Oculo-Facial Syndrome
    Branchio-Otorenal Dysplasia
    Scope note in EnglishAn autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
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Number of the records: 1  

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