UNLABELLED: Acinar dysplasia is a rare cause of death in the first few hours of life, due to an absence of alveoli. This report presents the first case associated with additional major renal malformations. The diagnosis of acinar dysplasia was unexpectedly made at autopsy. CONCLUSION: Even in the presence of antenatally diagnosed severe anomalies, autopsy may reveal diagnostically important information.
UNLABELLED: Acinar dysplasia is a rare cause of death in the first few hours of life, due to an absence of alveoli. This report presents the first case associated with additional major renal malformations. The diagnosis of acinar dysplasia was unexpectedly made at autopsy. CONCLUSION: Even in the presence of antenatally diagnosed severe anomalies, autopsy may reveal diagnostically important information.
Authors: Marie Vincent; Justyna A Karolak; Gail Deutsch; Tomasz Gambin; Edwina Popek; Bertrand Isidor; Przemyslaw Szafranski; Cedric Le Caignec; Paweł Stankiewicz Journal: Am J Respir Crit Care Med Date: 2019-11-01 Impact factor: 21.405
Authors: Justyna A Karolak; Marie Vincent; Gail Deutsch; Tomasz Gambin; Benjamin Cogné; Olivier Pichon; Francesco Vetrini; Heather C Mefford; Jennifer N Dines; Katie Golden-Grant; Katrina Dipple; Amanda S Freed; Kathleen A Leppig; Megan Dishop; David Mowat; Bruce Bennetts; Andrew J Gifford; Martin A Weber; Anna F Lee; Cornelius F Boerkoel; Tina M Bartell; Catherine Ward-Melver; Thomas Besnard; Florence Petit; Iben Bache; Zeynep Tümer; Marie Denis-Musquer; Madeleine Joubert; Jelena Martinovic; Claire Bénéteau; Arnaud Molin; Dominique Carles; Gwenaelle André; Eric Bieth; Nicolas Chassaing; Louise Devisme; Lara Chalabreysse; Laurent Pasquier; Véronique Secq; Massimiliano Don; Maria Orsaria; Chantal Missirian; Jérémie Mortreux; Damien Sanlaville; Linda Pons; Sébastien Küry; Stéphane Bézieau; Jean-Michel Liet; Nicolas Joram; Tiphaine Bihouée; Daryl A Scott; Chester W Brown; Fernando Scaglia; Anne Chun-Hui Tsai; Dorothy K Grange; John A Phillips; Jean P Pfotenhauer; Shalini N Jhangiani; Claudia G Gonzaga-Jauregui; Wendy K Chung; Galen M Schauer; Mark H Lipson; Catherine L Mercer; Arie van Haeringen; Qian Liu; Edwina Popek; Zeynep H Coban Akdemir; James R Lupski; Przemyslaw Szafranski; Bertrand Isidor; Cedric Le Caignec; Paweł Stankiewicz Journal: Am J Hum Genet Date: 2019-01-10 Impact factor: 11.025