Results 21 to 30 of about 2,852 (190)

Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene

Clinical Case Reports, 2022
Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown.
Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro   +9 more
doaj   +1 more source

A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Frontiers in Genetics, 2020
Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide.
Peiwen Xu, Peiwen Xu, Peiwen Xu, Ruirui Li, Ruirui Li, Ruirui Li, Sexin Huang, Sexin Huang, Sexin Huang, Menghan Sun, Jiaolong Liu, Jiaolong Liu, Jiaolong Liu, Yuping Niu, Yuping Niu, Yuping Niu, Yang Zou, Yang Zou, Yang Zou, Jie Li, Jie Li, Jie Li, Ming Gao, Ming Gao, Ming Gao, Xiaolei Li, Xiaolei Li, Xiaolei Li, Xuan Gao, Xuan Gao, Xuan Gao, Yuan Gao, Yuan Gao, Yuan Gao   +33 more
doaj   +1 more source

A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant

Respiratory Medicine Case Reports, 2023
Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on
Kouko Hidaka, Tetsuichiro Inai, Tomoki Kosho, Tomomi Yamaguchi, Yoshinori Kawabata, Yuko Inai, Shogo Imamura, Sakiko Sanada   +7 more
doaj   +1 more source

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, Nirupama Kasturi, Amit Kumar Deb, P Jayasri, Subashini Kaliaperumal   +4 more
doaj   +1 more source

Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? [PDF]

, 2008
In this report we have described an affected sib in a large Turkish family who appears to have a new distinct dominantly-inherited blindness, scoliosis and arachnodactyly syndrome.
ERKILIÇ, Kuddusi, Comeglio, P., Child, A.H., Matyas, G, Matyas, G., ARGÜN, Mahmut, Erkilic, K, Koseoglu, E, Erkilic, K., ÇAĞLAYAN, AHMET OKAY, Argun, M, Koseoglu, E., Dundar, M, Caglayan, A. O., Argun, M., Caglayan, A O, DÜNDAR, Munis, Dundar, M., KÖSEOĞLU, Emel, Child, A. H., Comeglio, P, Child, A H   +21 more
core   +1 more source

Marfan Syndrome, A Review

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
doaj   +1 more source

Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation

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, Lucia Buccioli, Laura Rabaut, Ivanna Fedoryshchenko, Josephina Meester, Lut Van Laer, Bart Loeys, Aline Verstraeten   +7 more
doaj   +1 more source

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, Omar Jalaleddinne BOUHIDEL, Radouane BOUKARROUCHA   +2 more
doaj   +1 more source

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

Marfan’s Syndrome with Tetralogy of Fallot in an Adult Female with Bronchiectasis An Unacquainted Manifestation

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, Anand Agrawal, Sunaina Kharb, Kamaljeet Singh   +3 more
doaj   +1 more source