Results 1 to 10 of about 2,491 (128)
Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly. [PDF]
Genet Res (Camb)Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis. It shares overlapping features with Marfan syndrome (MFS).
Zhao J +9 more
europepmc +2 more sources
A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria. [PDF]
Clin Case RepABSTRACT We report a 39‐year‐old woman with lifelong visual impairment who presented in June 2024 with progressive visual deterioration in her right eye. Ophthalmologic evaluation revealed severe high myopia, vitreoretinal degeneration, phthisis bulbi of the left eye, and downward lens dislocation of the right eye.
Asadollahzadeh E +4 more
europepmc +2 more sources
Circulation, 1959 Arachnodactyly is often associated with cardiovascular lesions. Most frequent are aortic abnormalities but congenital anomalies of the heart may be present. Another cardiac lesion has been found in some cases of arachnodactyly.
openaire +3 more sources
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
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Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study
International Journal of Cancer, Volume 159, Issue 7, Page 1707-1714, 1 October 2026.The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren +8 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications. While the role of homocystinuria in venous thromboembolism is well recognized, there is limited evidence of ...
Marisa Chard +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face.
Ray Thomas Katbe +2 more
wiley +1 more source
American Journal of Human Biology, Volume 38, Issue 2, February 2026.ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi +4 more
wiley +1 more source