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

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...

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Main Authors: Marie‐Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Clinical Case Reports
Subjects:
acampomelic campomelic dysplasia
olfactory bulbs agenesis
prenatal diagnosis
SOX9 gene
Online Access:https://doi.org/10.1002/ccr3.2228
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spelling doaj-1ef3b0e4fd95484c97fd830f2dc2507d2020-11-25T01:42:52ZengWileyClinical Case Reports2050-09042019-07-01771352135410.1002/ccr3.2228Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasiaMarie‐Julie Debuf0Valérie Benoit1Marie Cassart2Kalina Gajewska3Nathalie Gauquier4Colombine Meunier5Anne Rassart6Isabelle Maystadt7Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies BelgiumCentre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies BelgiumServices de Radiologie et Médecine Foetale Hôpitaux Iris Sud et CHU St Pierre Brussels BelgiumService de Gynécologie et d’Obstétrique Hôpital Civil Marie Curie Charleroi BelgiumService de Radiologie Hôpital Civil Marie Curie Charleroi BelgiumCentre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies BelgiumService de Néonatologie Hôpital Civil Marie Curie Charleroi BelgiumCentre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies BelgiumAbstract 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.https://doi.org/10.1002/ccr3.2228acampomelic campomelic dysplasiaolfactory bulbs agenesisprenatal diagnosisSOX9 gene
collection DOAJ
language English
format Article
sources DOAJ
author Marie‐Julie Debuf
Valérie Benoit
Marie Cassart
Kalina Gajewska
Nathalie Gauquier
Colombine Meunier
Anne Rassart
Isabelle Maystadt
spellingShingle Marie‐Julie Debuf
Valérie Benoit
Marie Cassart
Kalina Gajewska
Nathalie Gauquier
Colombine Meunier
Anne Rassart
Isabelle Maystadt
Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
Clinical Case Reports
acampomelic campomelic dysplasia
olfactory bulbs agenesis
prenatal diagnosis
SOX9 gene
author_facet Marie‐Julie Debuf
Valérie Benoit
Marie Cassart
Kalina Gajewska
Nathalie Gauquier
Colombine Meunier
Anne Rassart
Isabelle Maystadt
author_sort Marie‐Julie Debuf
title Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_short Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_full Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_fullStr Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_full_unstemmed Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
title_sort agenesis of olfactory bulbs: a forgotten diagnostic indicator of acampomelic campomelic dysplasia
publisher Wiley
series Clinical Case Reports
issn 2050-0904
publishDate 2019-07-01
description 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.
topic acampomelic campomelic dysplasia
olfactory bulbs agenesis
prenatal diagnosis
SOX9 gene
url https://doi.org/10.1002/ccr3.2228
work_keys_str_mv AT mariejuliedebuf agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
AT valeriebenoit agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
AT mariecassart agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
AT kalinagajewska agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
AT nathaliegauquier agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
AT colombinemeunier agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
AT annerassart agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
AT isabellemaystadt agenesisofolfactorybulbsaforgottendiagnosticindicatorofacampomeliccampomelicdysplasia
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