Apert syndrome in a first trimester fetus with diaphragmatic hernia

Autor:	N.A. Venchikova, A.A. Gusina et all, I.V. Novikova
Rok vydání:	2020
Předmět:	medicine.medical_specialty Fetus First trimester business.industry Obstetrics Medicine Diaphragmatic hernia Apert syndrome business medicine.disease
Zdroj:	prenatal diagnosis.
DOI:	10.21516/2413-1458-2020-19-1-63-67
Popis:	Apert syndrome (AS) is one of the most commonly described craniosynostosis syndromes. Prenatal diagnosis of left diaphragmatic hernia on malformed fetus with AS at 11+5 week’s of gestation is presented. This is the fourth report of AS in association with diaphragmatic hernia. The diagnosis of AS was confirmed by a molecular analysis of FGFR2, which showed a heterozygous Ser252Trp mutation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::c3cf038b5f0071a3d4f5a6244832d543 https://doi.org/10.21516/2413-1458-2020-19-1-63-67 Zobrazit plný text záznamu