Results 21 to 30 of about 3,806 (220)

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries [PDF]

, 2017
Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial ...
Broekelmann, Thomas J, Chu, Mon-Li, Halabi, Carmen M, Lee, Vivian S, Lin, Michelle, Mecham, Robert P   +5 more
core   +3 more sources

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type [PDF]

, 2017
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test.
Beighton, Beighton, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Clarkson, De Paepe, De Wandele, Gharbiya, Grahame, Grahame, Greenacre, Hakim, Kirk, Lebart, Loeys, Mayer, Palmer, Remvig, Remvig, Ritelli, Rombaut, Rombaut, Tinkle, Voermans, Voermans, Voermans, Zarate   +34 more
core   +1 more source

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

PLoS ONE, 2016
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song   +10 more
doaj   +1 more source

Congenital Contractural Arachnodactyly

Pediatric Neurology Briefs, 1990
An infant girl with arachnodactyly and spontaneously resolving contractures who died in cardiac failure is reported from the Paediatric Unit, Northern General Hospital and Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, England.
J Gordon Millichap
doaj   +1 more source

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature [PDF]

, 2017
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) gene. To date, there have been fewer than 10 reported patients.
Balasubramanian, M., Berg, J.N., Chandler, K., Deshpande, C., Firth, H.V., Fry, A.E., Lam, W., Metcalfe, K.A., Pilz, D., Study, D.D.D., Tomkins, S., Weber, A., Willoughby, J.   +12 more
core   +3 more sources

Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. [PDF]

, 2013
Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility.
Calzavara Pinton P., Chiarelli N., Colombi M., Dordoni C., Garavelli L., Manfredini E., Quinzani S., Ritelli M., Traversa M., Vascellaro A., Venturini M., Wischmeijer A., Zoppi N.   +12 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

When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children [PDF]

, 2015
Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility.
Cattalini, Marco, Cimaz, Rolando, Khubchandani, Raju   +2 more
core   +2 more sources