Pectus excavatum and MASS phenotype: an unknown association

Journal of Laparoendoscopic & Advanced Surgical Techniques. Part a
Francesca TocchioniAntonio Messineo

Abstract

Severe pectus excavatum (PE) is a deep chest wall deformity that generates both a cosmetic damage and a cardiac/respiratory function impairment. Excluding the scarce reports on Marfan's syndrome (MFS) and Ehlers-Danlos's syndrome (EDS), few studies have examined the relation between severe PE and connective tissue disorders. The aim of this study is to verify the clinical significance of such correlation. Ninety-two consecutive patients, of whom 79 were males, between 6 and 34 years old, classified as having severe PE, were seen at our institution from June 2005 to September 2010. All patients underwent clinical, ophthalmological, cardiac, and radiological (chest and spine magnetic resonance imaging) screening. The following features were observed: skin stretch marks, scoliosis, joint hypermobility, echocardiographic signs, spinal defects, and myopia. Classical connectivopathies such as MFS or EDS were present in only 5 patients (approximately 5%), whereas a single deformity was present in 4. The largest group (approximately 71%) was represented by phenotypical alterations such as mitral valve prolapse, aortic root enlargement, and skeletal and skin alterations (MASS). Among those patients, the most frequent clinical manifestat...Continue Reading

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Citations

Oct 31, 2013·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Francesca TocchioniAntonio Messineo
Aug 17, 2016·Journal of Laparoendoscopic & Advanced Surgical Techniques. Part a·Marco GhionzoliAntonio Messineo
Jun 23, 2021·Journal of the American Heart Association·Jordan E MorningstarRussell A Norris
Nov 24, 2021·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rebecca BascomClair A Francomano

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