The differential was further narrowed to connective tissue disorders that result in congenital vitreoretinopathies: Marfan syndrome, Ehlers-Danlos syndrome, Stickler syndrome and Knobloch syndrome.

Merrin McEwen, 9, Claire McEwen, 15, Amelia McEwen, 13 and their dad Bryan McEwen. All three girls have been diagnosed with the genetic Marfan syndrome. Joanna Griffiths / Fairfax NZ Claire McEwen ...

Ehlers-Danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes. These mutations cause defects in collagen.

Differential Diagnosis of EDS There are many varieties of EDS making the differential diagnosis challenging. Other causes of hypotonia or fragile skin must also be considered. These include: Cutis ...

Calderon-Martinez E, Velasco W, Guo, D. et al. Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome. JACC. Published online June 16, 2025. 85 (24) 2355–2367. doi: ...

Gemignani, F., Brindani, and Vitetta F, (2009) Restless Legs Syndrome Differential Diagnosis and Management with Pramipexole. Clinical Interventions in Aging, 4, 305-313.

Objective Marfan syndrome (MFS)-associated cardiomyopathy, defined as ventricular dilation and dysfunction unexplained by volume loading, is not well defined in children. This study evaluated ...

Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation ...

this paper focuses on the syndrome name generation method of syndrome differential based on the traditional Chinese medicine (TCM) theory. Based on the theory of TCM diagnosis, a multi-hierarchies ...

Abstract: Dementia, as a clinical syndrome, has many potential causes. The majority of cases are due to neurodegenerative diseases and/or vascular disease with relatively gradual progressive clinical ...

Univariate analysis has identified several criteria that aid the differential diagnosis of broad complex tachycardia. In this study of 102 consecutive patients multivariate analysis was performed to ...