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Unilateral lobar pulmonary agenesis in sibs


Fokstuen, Siv; Schinzel, Albert (2000). Unilateral lobar pulmonary agenesis in sibs. Journal of Medical Genetics, 37(7):557-559.

Abstract

EDITOR—Pulmonary agenesis is an extremely rare congenital malformation which has been classified morphologically by the extent to which bronchopulmonary tissue is absent. Spencer1 divided pulmonary agenesis into (1) bilateral complete agenesis, (2) unilateral agenesis with (a) complete absence of bronchi, (b) rudimentary bronchus present but no pulmonary tissue, or (c) poorly developed main bronchus with poorly organised parenchyma, and (3) lobar agenesis. The incidence of this rare condition is not known. According to the calculations of Mardini and Nyhan2it may range between 0.0034 and 0.0097%. Familial pulmonary agenesis is even more uncommon. We found only two published reports of affected sibs.3 4 One pair of sibs had agenesis of the right upper and middle lobes3 and the other pair suffered from bilateral agenesis.4

Abstract

EDITOR—Pulmonary agenesis is an extremely rare congenital malformation which has been classified morphologically by the extent to which bronchopulmonary tissue is absent. Spencer1 divided pulmonary agenesis into (1) bilateral complete agenesis, (2) unilateral agenesis with (a) complete absence of bronchi, (b) rudimentary bronchus present but no pulmonary tissue, or (c) poorly developed main bronchus with poorly organised parenchyma, and (3) lobar agenesis. The incidence of this rare condition is not known. According to the calculations of Mardini and Nyhan2it may range between 0.0034 and 0.0097%. Familial pulmonary agenesis is even more uncommon. We found only two published reports of affected sibs.3 4 One pair of sibs had agenesis of the right upper and middle lobes3 and the other pair suffered from bilateral agenesis.4

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:July 2000
Deposited On:23 Jun 2023 11:25
Last Modified:29 Apr 2024 01:38
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1136/jmg.37.7.557
Related URLs:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734643/ (Library Catalogue)
PubMed ID:10970195
Other Identification Number:PMCID: PMC1734643