Results 41 to 50 of about 3,806 (220)

ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries [PDF]

, 2015
The proteins ELN and FBN2 are important in extracellular matrix function. The ELN rs2071307 and FBN2 rs331079 gene variants have been associated with soft tissue pathologies. We aimed to determine whether these variants were predisposing factors for both
Collins, M, Cook, J, El Khoury, Louis, Handley, C J, Posthumus, Michael, Raleigh, Stuart M, van der Merwe, W   +6 more
core   +1 more source

Genu valgum and arachnodactyly: a rare presentation in Wildervanck syndrome

Ukrainian Journal of Ophthalmology
Background: 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
doaj   +1 more source

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

Annals of Saudi Medicine, 2015
BACKGROUND AND OBJECTIVES: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity. We present the strategy employed to determine the gene locus responsible for the syndrome.
Seda Orenay-Boyacioglu, Mustafa Tekin, Munis Dundar   +2 more
doaj   +1 more source

Neurovisceral phenotypes in the expression of psychiatric symptoms [PDF]

, 2015
This review explores the proposal that vulnerability to psychological symptoms, particularly anxiety, originates in constitutional differences in the control of bodily state, exemplified by a set of conditions that include Joint Hypermobility, Postural ...
Aktas, Al-Rawi, Anderson, Andrew P. Owens, Arunkalaivanan, Baeza-Velasco, Bagai, Bayles, Beacher, Benarroch, Bendik, Benrud-Larson, Birner, Boddaert, Bohora, Bovell, Bulbena, Bulbena, Bulbena, Bulbena, Bulbena, Bulbena, Buodo, Castori, Child, Christopher J. Mathias, Cohen, Critchley, Critchley, Critchley, De Kort, De Wandele, Eccles, Eccles, Eccles, Ekman, Engel, Esler, Esler, Fenton, Friedman, Fu, Ganzeboom, Garcia Campayo, Gazit, Giada, Gracie, Grahame, Grahame, Grubb, Hakim, Hakim, Hugo D. Critchley, Hunt, Jessica A. Eccles, Joyner, Kanjwal, Kapoor, Karaca, Karan, Kaya, Kelly, Khurana, Khurana, Kirby, Koldas Dogan, Kouakam, Lader, Lambert, Lammers, Lee, Leftheriotis, Lemche, Lemche, Lewis, Lewis, Linzer, Lonsdale-Eccles, Low, Luborsky, Mallorqui-Bague, Martin-Santos, Masuki, Mathias, Mathias, Mayer-Gross, McGrady, Milhorat, Mohammed, Morgan, Mulvey, Nicotra, Nijs, Noppen, Ocon, Ocon, Ofluoglu, Ojha, Parsaik, Paulus, Peggs, Phillips, Porges, Pritchard, Raj, Raj, Ramos, Ross, Rozen, Sanches, Satoshi Umeda, Savage, Schievink, Schondorf, Seth, Sierra, Sierra, Sierra, Simeon, Sledge, Smith, Stachenfeld, Stewart, Stoler, Tinkle, Tracey, Umeda, Ventura, Vounotrypidis, Wooley, Yazici, Zarate, Zysko   +132 more
core   +2 more sources

Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly

Frontiers in Genetics, 2022
Background: Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases.
Jiayong Qiu, Yao Lou, Yingwei Zhu, Min Wang, Huifang Peng, Yingying Hao, Hongwei Jiang, Yimin Mao   +7 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

Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]

, 2016
First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C., Bruno, D., Chong, C., Feng, J., Hahn, C., Klingler-Hoffmann, M., Lee, Y., Lipsett, J., Mcphee, A., Nataren, N., Schreiber, A., Schwarz, Q., Scott, H.   +12 more
core   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

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, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family

Clinical Case Reports, 2018
Key Clinical Message We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five‐generation Chinese family.
Shiyuan Zhou, Fengyu Wang, Yongheng Dou, Jiping Zhou, Gefang Hao, Chengqi Xu, Qing K. Wang, Haili Wang, Pengyun Wang   +8 more
doaj   +1 more source

Neonatal inflammatory skin and bowel disease type 2: a very rare disease associated with EGFR mutation

Journal of Pediatric and Neonatal Individualized Medicine, 2020
Homozygous Epidermal Growth Factor Receptor (EGFR) mutation is associated with neonatal inflammatory skin and bowel disease type 2. We present the case of a preterm female infant with severe growth restriction and a severe and complex clinical course ...
Mariana Lemos, Joana S. Gonçalves, Cátia R. Correia, Ana Teresa Maria   +3 more
doaj   +1 more source