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

doi:10.1002/ccr3.2228

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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Résumé

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.

langue originale	Anglais
Pages (de - à)	1352-1354
Nombre de pages	3
journal	Clinical Case Reports
Volume	7
Numéro de publication	7
Les DOIs	https://doi.org/10.1002/ccr3.2228
Etat de la publication	Publié - juil. 2019

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10.1002/ccr3.2228

Debuf_et_al-2019-Clinical_Case_ReportsVersion finale publiée, 238 KB

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title = "Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia",

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.",

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AU - Debuf, Marie Julie

AU - Benoit, Valérie

AU - Cassart, Marie

AU - Gajewska, Kalina

AU - Gauquier, Nathalie

AU - Meunier, Colombine

AU - Rassart, Anne

AU - Maystadt, Isabelle

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AB - 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.

KW - acampomelic campomelic dysplasia

KW - olfactory bulbs agenesis

KW - prenatal diagnosis

KW - SOX9 gene

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

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