Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case

Autor: Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Abstract Background In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to

Externí odkaz: https://doaj.org/article/a27bc7de37c240fbb01c3dfa427cba1f

Sirenomelia-Challenges and Treatment Approach in a Rare Case.

Autor: Sosińska D; The Department of Surgery and Urology for Children and Adolescents, Medical University of Gdansk, Gdansk, Poland., Gołębiewski A; The Department of Surgery and Urology for Children and Adolescents, Medical University of Gdansk, Gdansk, Poland., Czauderna P; The Department of Surgery and Urology for Children and Adolescents, Medical University of Gdansk, Gdansk, Poland.

Publikováno v: Birth defects research [Birth Defects Res] 2024 Dec; Vol. 116 (12), pp. e2425.