Results 21 to 30 of about 3,083 (188)

A 12-Year-Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report. [PDF]

Clin Case Rep
ABSTRACT A 12‐year‐old girl with facioscapulohumeral muscular dystrophy and severe pectus excavatum presented with progressive dyspnea and restrictive ventilatory impairment. She underwent successful Nuss repair with uneventful recovery. At 6‐month follow‐up, chest contour and pulmonary function improved, suggesting that surgical correction is feasible
Chen S, Chen C, Zeng Q.
europepmc   +2 more sources

Arachnodactyly

, 2001
R.E. Pyeritz
core   +3 more sources

Arachnodactyly

, 2011
core   +4 more sources

Congenital Contractural Arachnodactyly (Beals-Hecht Syndrome): A Case Report

Haseki Tıp Bülteni, 2011
Ali Karaman, Hasan Kahveci
doaj   +1 more source

A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria. [PDF]

Clin Case Rep
ABSTRACT 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, Rezaei A, Shahmaei V, Johari MS, Sahraian MA.   +4 more
europepmc   +2 more sources

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

Molecular Genetics & Genomic Medicine, 2021
Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2).
Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang   +6 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.
Koseoglu, E, Argun, M, Dundar, M, Caglayan, A O, Matyas, G, Comeglio, P, Child, A H, Erkilic, K   +7 more
core   +2 more sources

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 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

Arachnodactyly Heart [PDF]

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