Literature DB >> 2062571

Congenital acinar aplasia: an extreme form of pulmonary maldevelopment.

H M Chambers1.   

Abstract

A case is reported of an extreme form of intrauterine pulmonary maldevelopment in a term infant characterized by almost total failure of development of terminal respiratory units with arrest of pulmonary growth early in the second trimester. This is believed to be only the second reported case of this condition.

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Mesh：

Year:  1991        PMID： 2062571     DOI： 10.3109/00313029109061444

Source DB:  PubMed          Journal:  Pathology        ISSN： 0031-3025            Impact factor:   5.306


  6 in total

1.  Severe primary pulmonary hypoplasia ("acinar dysplasia") in sibs: a genetically determined mesodermal defect?

Authors:  P Moerman; C Vanhole; H Devlieger; J P Fryns
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

Review 2.  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

3.  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

4.  Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.

Authors:  Kendell German; Gail H Deutsch; Amanda S Freed; Katrina M Dipple; Shilpi Chabra; James T Bennett
Journal:  Am J Med Genet A       Date:  2019-03-03       Impact factor: 2.802

Review 5.  Interstitial Lung Disease in Childhood: Clinical and Genetic Aspects.

Authors:  Hiroshi Kitazawa; Shigeo Kure
Journal:  Clin Med Insights Circ Respir Pulm Med       Date:  2015-10-11

6.  Congenital acinar dysplasia: report of a case and review of literature.

Authors:  Mary Langenstroer; S J Carlan; Naim Fanaian; Suzanna Attia
Journal:  AJP Rep       Date:  2012-12-10
  6 in total

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