Results 11 to 20 of about 3,806 (220)

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report [PDF]

Arquivos de Neuro-Psiquiatria, 2001
We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA).
Rosana Herminia Scola, Lineu Cesar Werneck, Fabio Massaiti Iwamoto, Letícia Cristine Ribas, Salmo Raskin, Ylmar Correa Neto   +5 more
doaj   +1 more source

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

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

Journal of the Formosan Medical Association, 2008
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis ...
Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su   +5 more
doaj   +1 more source

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

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
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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

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

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

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

Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family [PDF]

, 2015
Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes
Abouzeid, Hana, ElShakankiri, Nihal, Jakobsson, Cecilia, Marzouk, Iman, Munier Francis, L., Nader, Bayoumi, Schorderet Daniel, F, Youssef Mohamed, A   +7 more
core   +1 more source