Results 31 to 40 of about 3,083 (188)
Ocular complications in methylenetetrahydrofolate reductase deficiency and its meticulous management
Kerala Journal of Ophthalmology, 2023 A 13-year-old girl with a systemic diagnosis of homocystinuria (methylenetetrahydrofolate reductase deficiency type) associated with intellectual disability, skeletal abnormalities (genu varum, kyphoscoliosis, and arachnodactyly), and pancytopenia ...
Mary Stephen +4 more
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Journal of Biomedicine and Translational Research, 2018 Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for
Gerard Pals
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Cardiovascular Lesions in Arachnodactyly [PDF]
Circulation, 1953 The cardiovascular lesions in 34 cases of Marfan's syndrome which were studied post mortem are reviewed. Recent reports show that the most common and most important lesion is cystic necrosis of the media which results in aneurysmal formations of the ascending aorta.
E M, GOYETTE, P W, PALMER
openaire +2 more sources
Stem Cell Research, 2023 Patients carrying IPO8 bi-allelic loss-of-function variants have a highly consistent phenotype that resembles the phenotype of Loeys-Dietz syndrome.
Ilse Van Gucht +7 more
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Acute aortic dissection of an ascending aortic aneurysm in a patient with Marfan’s disease: a case report [PDF]
Batna Journal of Medical Sciences, 2023 Marfan syndrome is a rare genetic disease. It is characterized by the involvement of one or more organs and can cause skeletal disorders (tall stature, scoliosis), ophthalmological disorders (ectopia of the lens), and cardiac disorders (aortic dilation)
Redha LAKEHAL +2 more
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Amrita Journal of Medicine, 2021 Marfan’s syndrome is an autosomal dominant genetic disorder related to a mutation in fibrillin gene type 1 involving mainly the cardiovascular, ocular, skeletal, and pulmonary systems.
Puneet Singla +3 more
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Research progress in Haim-Munk syndrome
Pifu-xingbing zhenliaoxue zazhi, 2023 Haim-Munk syndrome is an extremely rare autosomal recessive genetic disease, characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, arachnodactyly, acro-osteolysis, pes planus foot and nail atrophic deformation.
Dandan DONG +6 more
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Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome
Ukrainian Journal of OphthalmologyBackground: Cervico-Oculo-acoustic syndrome, also known as Wildervanck syndrome, is a rare inherited disorder that causes congenital hearing loss, Klippel-Feil abnormalities, and Duane retraction syndrome.
Dipti Shikha Kashyap, Mohit Kumar
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