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[Connective tissue dysplasias (hereditary collagenopathies)].

Authors: V B, Simonenko; P A, Dulin; D N, Panfilov; L B, Beliaev; M A, Makanin; I S, Denishchuk; O S, Stapaniats; +1 Authors

[Connective tissue dysplasias (hereditary collagenopathies)].

Abstract

Connective tissue dysplasia (hereditary collagenopathy) presents a group of genetically heterogenous and clinically polymorphic pathological conditions, associated with disturbances in the forming of connective tissue during the embryonal and postnatal periods. Differentiated dysplasias include monofactor diseases with an established genetic defect and clear clinical symptoms, such as Marfan's syndrome, Ehlers-Danlo's syndrome, and osteogenesis imperfecta. The variants of non-differentiated hereditary dysplasias include primary mitral valve prolapse and other minor heart anomalies, tracheobronchial dyskinesia, visceroptosis, join hypermobility, congenital chest deformations, "weakness" of the ligamentous apparatus of the foot and the spine, and a range of other prevalent pathological changes. The author adduces his own observation of a patient with Marfan's syndrome.

Keywords

Adult, Diagnosis, Differential, Male, Cardiovascular Diseases, Hearing Loss, Sensorineural, Humans, Collagen, Marfan Syndrome

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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