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The presence of genetic disorders associated chest wall malformations

Domenii publicaţii > Ştiinţe medicale + Tipuri publicaţii > Articol în revistã ştiinţificã

Autori: V. David, A. Radulescu, M. C. Popoiu, M. Puiu, E. S. Boia, O. Adam, R.Iacob

Editorial: nature publishing group, European journal of human genetics, Volume 14 Supplement 1 May 2006, p.113, 2006.


Background: Although the pectus excavatum is the most common malformation of the anterior wall of a child’s thorax, today the causes that determine the appearance of this malformation are not known. There is increasing evidence nowadays that genetics plays an important role in the appearance of chest wall malformations.
Objectives: The purpose of this study was to identify the cases that have associated with the chest wall malformation a genetic condition that might have a role in the appearence of the malforation in the first place .
Material and Method: The present is a retrospective study that analizes a number of 121 medical records of pacients affected by chest wall malformations such as pectus excavatum , pectus carinatum treated at the Childrens Hospital Louis Turcanu ,Department of Pediatric Surgery in Timisoara,during 1986-2003 .
Results: In the analyzed group of subjects 5 patients presented Poland syndrome ,1 had Marfan syndrome, 1 presented Turner syndrome and 1 had associated with the chest wall malformation syndactily of the hands.
The male/female ratio was 2.1/1 in favor of male patients. The average age range was between 5-17 years,80% patients being teenagers.
Many patients with postoperative relapses were those that had associated with their condition a genetic disorder.
Conclusions: With regards to the conclusions of this study, we noticed the importance of genetical disorders that undoubtedly complicate the management of the chest wall malformations.
It is equally important for these patients to get a genetics specialist counselling to improve the outcome of their condition.

Cuvinte cheie: malformatii ale peretelui toracic, torace in carena, boli genetice // chest wall malformations, pectus excavatum, genetic disorders