Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Guillaume CoganNicolas BourgonRoxana BorgheseEmmanuel JulienAurélia JaquetteBertrand StosAmale AchaiaaSophie ChuonPatrick NitschkeCécile FourrageJulien StirnemannLucile BoutaudTania Attie-BitachPublished in: Molecular genetics & genomic medicine (2023)
Menke-Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke-Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging.