Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
Sign Up to like & getrecommendations! Published in 2020 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5818
Abstract: The purpose of this study was to elucidate the facial morphology and the pattern of internal malformations in three fetuses with RS born to first cousins of Egyptian decent. read more here.
Keywords: syndrome prenatal; diagnosis; raine syndrome; diagnosis based ... See more keywords
Apert syndrome: prenatal diagnosis challenge
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-231982
Abstract: Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can… read more here.
Keywords: syndrome prenatal; diagnosis; prenatal diagnosis; apert syndrome ... See more keywords