Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

Marie Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt

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    Abstract

    Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by SOX9 haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs. The detection of agenesis of olfactory bulbs could help establish a prenatal diagnosis of CD or ACD, although prevalence of this sign remains unknown.

    Original languageEnglish
    Pages (from-to)1352-1354
    Number of pages3
    JournalClinical Case Reports
    Volume7
    Issue number7
    DOIs
    Publication statusPublished - Jul 2019

    Keywords

    • acampomelic campomelic dysplasia
    • olfactory bulbs agenesis
    • prenatal diagnosis
    • SOX9 gene

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