2013, Number 3
Poland sequence: case reports of familial recurrence
Language: Spanish
References: 10
Page: 186-193
PDF size: 224.16 Kb.
ABSTRACT
Introduction: Poland sequence is a rare set of congenital defects characterized by total or partial agenesis of the chest muscle (pectoralis major) with varied associations of other defects at the level of thorax and superior limbs. Its presentation is sporadic and most often affects one side of the body.Objective: to characterize Poland sequence in two individuals of the same family from the clinical point of view.
Material and Methods: a descriptive study of case reports.
Conclusions: the findings lead to a familial transmission of gene susceptibility participating in the origin of this syndrome under the potential actions of environmental factors that justify the marked clinical heterogeneity of this birth defect.
REFERENCES
Rajiv G, Saheer S, Vaibhav G, Sumit M. Poland sequence: Series of two cases and brief review of the literature. Ann Thorac Med [Internet]. Apr-Jun 2012 [citado 10 Sep 2012]; 7(2): 110-112. Disponible en: http://www.thoracicmedicine.org/article.asp?issn=1817- 1737;year=2012;volume=7;issue=2;spage=110;epage=112;aulast=Garg
Cares B, Carolina Y Aravena C, Teresa. Asociación Sindromática: Poland, Goldenhar, Moebius, Klippel-Feil. Presentación de un Caso Clínico. Rev. chil. pediatr. [Internet]. 2010 [citado 23 Ene 2013]; 81(1): 53-57. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370- 41062010000100007&lng=es&nrm=iso
Torre M, Baban A, Buluggiu A, Costanzo S, Bricco L, Lerone M, et al. Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. J Thorac Cardiovasc Surg. [Internet]. 2010. [citado 23 Ene 2013]; 139(5):1177-82. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/19909992
Sierra Santos L, González Rodríguez. Síndrome de Poland: descripción de dos casos familiares. An Pediatr. [Internet]. 2008 [citado 27 Ene 2013]; 69(1): 49-51. Disponible en: http://apps.elsevier.es/watermark/ctl_servlet?_f=10&pident_articulo=13124219&pi dent_usuario=0&pcontactid=&pident_ revista=37&ty=140&accion=L&origen=elsevier&web=www.elsevier.es&lan=es&fich ero=37v69n01a13124219pdf001.pdf