Original articleEhlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries†
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Corneal stromal deposits in connective tissue disease, a case series
2022, American Journal of Ophthalmology Case ReportsCitation Excerpt :Since then, ATS has been considered distinct from EDS but the two share many phenotypic similarities, including their ophthalmic manifestations. Most notably, these manifestations include high myopia, keratoconus, and keratoglobus.1,2 Brittle cornea syndrome has been reported in association with EDS type VI, a rare autosomal recessive disease affecting extracellular matrix and collagen synthesis characterized by blue sclera and corneal thinning which increases the risk of corneal rupture either spontaneously or with minor trauma.3,4
Arterial tortuosity syndrome: 40 new families and literature review
2018, Genetics in MedicineAn algorithmic approach to CT of pulmonary arterial disorders
2016, Clinical ImagingCitation Excerpt :Patients in this syndrome may have pulmonary stenosis with or without a dysplastic pulmonary valve [81]. Ehlers–Danlos syndrome results from a genetic collagen defect with multisystemic consequences, and those with predominantly vascular manifestations can demonstrate multiple pulmonary artery stenoses [82]. Congenital rubella syndrome, caused by in utero infection of the fetus by the rubella virus, is associated with branch pulmonary artery stenoses and PDA [83].
Respiratory complications of Ehlers-Danlos syndrome type IV
2013, Legal MedicineCitation Excerpt :In addition, the thoracic aorta showed thin adventitia and a relative increase in elastic fibers. These findings were considered to be because of an increase in abnormal collagen fibers as described previously [12–14]. Although uncommon, respiratory manifestations of EDS have also been described [15–17] and include recurrent hemoptysis, bulla formation, spontaneous pneumothorax, and repeated episodes of pneumonia.
Retinal arterial tortuosity in Ehlers–Danlos syndromes
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Supported in part by United States Public Health Service Grants Nos. HE 06336-08 and HE 10132-04 and by the Oregon Heart Association.