Results 61 to 70 of about 240,041 (144)

A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly [PDF]

, 1997
SummaryCongenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome.
Maslen, Cheryl, Raghunath, Michael, Michael Raghunath, Babcock, Darcie, Cheryl Maslen, Darcie Babcock, Steinmann, Beat, Beat Steinmann   +7 more
core   +1 more source

A CASE OF BEALS' SYNDROME (CONGENİTAL CONTRACTURAL ARACHNODACTYLY)

, 1998
BEALS' SYNDROME, ALSO KNOWN AS CONGENİTAL CONTRACTURAL ARACHNODACTYLY, IS A RECENT RECOGNİZED DİSORDER CHARACTERİZED BY MULTİPLE JOİNT ...
Akçoral, Adnan, KARAOĞLAN, OSMAN, ÖZKAN, HASAN, ÖREN, HALE, ÖREN, Bahattin, ALICI, EMİN   +5 more
core  

Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated with Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s Syndrome [PDF]

, 1996
Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s syndrome, is an autosomal dominant disorder characterized by multiple congenital joint contractures, arachnodactyly, dolichostenomelia, and scoliosis with only rare ocular or ...
Babcock, Darcie
core   +1 more source

The spectrum of arthrogryposis in 33 Chinese children

, 1997
The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course.
Wong, V
core   +1 more source

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations

Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2.
Zongzhe Li (289169), Shulin Yang (76751)
core   +1 more source

Two cases of Birt-Hogg-Dubé syndrome combined with congenital contractural arachnodactyly. [PDF]

Quant Imaging Med Surg, 2023
Wu C, Qiang J, Wang H, Xiao M.
europepmc   +1 more source

Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia Oliveira LM, Bahia-Oliveira Lilian M. G., Bahia-Oliveira, LM, Wallon M, Martine Wallon, Lilian M G Bahia-Oliveira, Petersen E, Miles R Stanford, Wallon Martine, Stanford MR, Ruth E Gilbert, Tan, HK, Freeman, K, Katherine Freeman, Stanford Miles R., Lago, EG, Lago EG, Hooi Kuan Tan, Stanford, MR, Tan Hooi Kuan, Freeman K, Gilbert RE, Tan HK, European Multicentre Study on Congenital T.o.x.o.p.l.a.s.m.o.s.i.s., Freeman Katherine, Gilbert, RE, Eskild Petersen, Gilbert Ruth E., European Multicentre Study on Congenital Toxoplasmosis (EMSCOT), Buffolano Wilma, Wilma Buffolano, Petersen, E, Lago Eleonor G., BUFFOLANO, WILMA, Eleonor G Lago, Buffolano, W, Wallon, M, Petersen Eskild   +37 more
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Congenital heart block associated with Sjögren syndrome: case report [PDF]

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +1 more source

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

, 2002
Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS.
Ades, LC, Steinmann, B, Carmical, SG, Danesino, C, Delorme, CV, Metcalfe, K, Gupta, PA, Putnam, EA, Thong, MK, Kaitila, [No Value], Child, A, Milewicz, DM, Chen, E, Berry, SA   +13 more
core  

Congenital contractural arachnodactyly suspected by abnormally long extremities by fetal ultrasound. [PDF]

BMJ Case Rep, 2021
Miyake R, Ichikawa M, Naruse K.
europepmc   +1 more source