First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2020.1785410
Abstract: Mandibulofacial dysostosis with microcephaly (MFDM) is a genetic syndrome comprising microcephaly, first and second branchial arch anomalies, hearing loss, dysmorphic features, systemic malformatio... read more here.
Keywords: microcephaly; dysostosis microcephaly; first trimester; mandibulofacial dysostosis ... See more keywords
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006206
Abstract: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report… read more here.
Keywords: mandibulofacial dysostosis; loss; loss eftud2; novo start ... See more keywords