Literature DB >> 24467188

Rapidly fatal "congenital lung dysplasia": a case report and review of the literature.

Massimiliano Don1, Maria Orsaria, Eva Da Dalt, Carmela Tringali, Bruno Sacher.   

Abstract

Acinar dysplasia congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins belong to the diffuse developmental disorders (congenital lung dysplasia), very rare fatal disorders of infancy that occur early in lung development. A case of quickly fatal congenital lung dysplasia in a full-term infant is presented and underlines the necessity to suspect this disease in a newborn suffering from severe and refractory respiratory distress.

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Year:  2014        PMID： 24467188     DOI： 10.3109/15513815.2013.878009

Source DB:  PubMed          Journal:  Fetal Pediatr Pathol        ISSN： 1551-3815            Impact factor:   0.958


  3 in total

Review 1.  Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

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

2.  Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

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

3.  Recurrence of alveolar capillary dysplasia with misalignment of pulmonary veins in two consecutive siblings.

Authors:  Gabriel Nuncio Benevides; Patricia Picciarelli de Lima; Aloisio Felipe-Silva; Silvana Maria Lovisolo; Ana Maria Andrello Gonçalves Pereira de Melo
Journal:  Autops Case Rep       Date:  2015-03-30
  3 in total

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