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dyzostóza mandibulofaciálna

  1. Subject h.dyzostóza mandibulofaciálna
    Subject h.Mandibulofacial Dysostosis
    Entry termsMFD1 mandibulofaciálna dyzostóza
    mandibulofaciálna dyzostóza (MFD1)
    dysostosis mandibulofacialis
    Treacherov Collinsov syndróm
    Treacher Collinsov syndróm
    Franceschettiho-Zwahlenov-Kleinov syndróm
    Treacher Collinsov-Franceschettiho syndróm
    Treacherov Collinsov-Franceschettiho syndróm
    dysostóza mandibulofaciálna
    English X referencesMFD1 Mandibulofacial Dysostosis
    Treacher Collins Syndrome
    Scope note in EnglishA hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
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Number of the records: 1  

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