Results 71 to 80 of about 3,083 (188)

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  

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

, 2014
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis.
Temtamy, Samia, Otaify, Ghada A, Aglan, Mona S, Antonarakis, Stylianos, Makrythanasis, Periklis   +4 more
core   +1 more source

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

Congenital contractural arachnodactyly Síndrome de la arcnodactilia contractural: estudio de un caso esporádico y revisión de la literatura

Iatreia, 1991
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The Congenital Contractural Arachnodactyly Syndrome is a heredltary disorder of connective tissue characterized by multiple congenital contractures, arachnodactyly ...
Betty Nishikuni, Amanda Mejía, José Luis Ramírez Castro   +2 more
doaj  

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

Egyptian Journal of Medical Human Genetics, 2017
We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

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

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly [PDF]

, 2016
BackgroundCongenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide.
Yun Chen, Qinzhao Yuan, Yu, Baofeng, Jinjie Xue, Shi, Yaping, Xie, Jun, Yaping Shi, Chunying Song, Guo, Xingping, Huaixiu Wang, Yanan Yuan, Xinmin Li, Meng, Weijing, Qi, Lixin, Jun Xie, Yunxia Liang, Baofeng Yu, Li, Hongxia, Xingping Guo, Liang, Yunxia, Song, Chunying, Yuan, Yanan, Wang, Huaixiu, Xue, Jinjie, Chen, Yun, Li, Xinmin, Weijing Meng, Yuan, Qinzhao, Hongxia Li, Lixin Qi   +29 more
core   +2 more sources

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

Shprintzen-Goldberg syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
doaj  

Beals' arachnodactyly

, 2011
openaire   +2 more sources