XXXX and MASS phenotype: an unknown association.

@entity1 @entity2597 @entity1614 @entity16 @entity1635 @entity4681 @entity4243 @entity3454 @entity764 @entity14884 @entity439 @entity65 @entity299 @entity2333 @entity85 @entity1408 @entity1714
INTRODUCTION: Severe @entity1408 ( @entity1408 ) is a deep @entity764 that generates both a @entity16 and a @entity299 . Excluding the scarce reports on @entity1614 ( @entity1614 ) and @entity4243 ( @entity4243 ), few studies have examined the relation between severe @entity1408 and @entity2597 . The aim of this study is to verify the clinical significance of such correlation. SUBJECTS AND METHODS: Ninety-two consecutive @entity1 , of whom 79 were males, between 6 and 34 years old, classified as having severe @entity1408 , were seen at our institution from June 2005 to September 2010. All @entity1 underwent clinical, ophthalmological, cardiac, and radiological (chest and spine magnetic resonance imaging) screening. The following features were observed: skin stretch marks, @entity1635 , @entity14884 , echocardiographic signs, @entity4681 , and @entity1714 . RESULTS: Classical connectivopathies such as @entity1614 or @entity4243 were present in only 5 @entity1 (approximately 5%), whereas a @entity85 was present in 4. The largest group (approximately 71%) was represented by phenotypical alterations such as @entity3454 , @entity2333 , and skeletal and skin alterations (MASS). Among those @entity1 , the most frequent clinical manifestations were the skeletal ones, followed by skin marks and @entity3454 . CONCLUSIONS: @entity1408 showed an evident association with an array of features that we describe as MASS. Although not one of this subgroup of @entity1 has been described with increased aortic root diameter when screened (a feature widely present in @entity1614 @entity1 ), they probably would require a thorough and longer follow-up than those affected by isolated @entity1408 because of the potential occurrence of severe @entity65 such as @entity439 and dissection, which are major causes of morbidity and mortality in @entity1614 .
