In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Date publication

mars 2018

Journal

Birth defects research

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence

Tous les auteurs :
Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/29193896

Résumé

OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and renal signs. Its prevalence is between 1/250,000 and 1/50,000 births. It is due to heterozygous mutations of OFD1 and mutations are often de novo (75%). Familial forms show highly variable phenotypic expression. OFD1 encodes a protein involved in centriole growth, distal appendix formation, and ciliogenesis.

Mots clés

Agenesis of Corpus Callosum, diagnostic imaging, Female, Fetus, diagnostic imaging, Humans, Orofaciodigital Syndromes, diagnostic imaging, Pregnancy, Ultrasonography, Prenatal

Référence

Birth Defects Res. 2018 03 1;110(4):382-389