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

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

Afiliação

Debuf MJ; Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.
Benoit V; Service de Pédiatrie Université Catholique de Louvain Brussels Belgium.
Cassart M; Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.
Gajewska K; Services de Radiologie et Médecine Foetale Hôpitaux Iris Sud et CHU St Pierre Brussels Belgium.
Gauquier N; Service de Gynécologie et d'Obstétrique Hôpital Civil Marie Curie Charleroi Belgium.
Meunier C; Service de Radiologie Hôpital Civil Marie Curie Charleroi Belgium.
Rassart A; Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.
Maystadt I; Service de Néonatologie Hôpital Civil Marie Curie Charleroi Belgium.

Clin Case Rep ; 7(7): 1352-1354, 2019 Jul.

Article em En | MEDLINE | ID: mdl-31360485

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.

Palavras-chave

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

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2019 Tipo de documento: Article