Results 61 to 70 of about 598 (144)

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

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

, 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
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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

, 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
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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

Congenital Contractural Arachnodactyly

, 1991
RESUMEN: El síndrome de la aracnodactilia contractural es una alteración hereditaria del tejido conectivo, caracterizada por múltiples contracturas congénitas, aracnodactilia, dolicostenomelia, cifoescoliosis, dismorfia de los pabellones auriculares y un
Mejía, Amanda, Nishikuni, Betty, Ramírez Castro, José Luis   +2 more
core  

A 36-Year-Old Female With Congenital Contractural Arachnodactyly and Pectus Excavatum Requiring Fourth-Time Redo Surgical Correction. [PDF]

Cureus, 2021
Dada RS, Hayanga JW, Abbas Khan MA, Toker A, Hayanga HK.   +4 more
europepmc   +1 more source

Infantile scoliosis in Beals syndrome: the use of a non-fusion technique for surgical correction.

, 2006
Beals syndrome (congenital contractural arachnodactyl) is a genetic disorder of the connective tissue phenotypically related to Marfan syndrome. It is characterised by dolichostenomelia, arachnodactyly, multiple joint contractures, crumpled ears ...
Marks, DS, Child, AH, Martin, Anthony, Thompson, Alistair, Foguet, PR   +4 more
core   +1 more source

Galloway-Mowat Syndrome in Taiwan

, 2008
　　We report on two Chinese female infants with multiple congenital anomalies: microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly.
侯家瑋;王作仁, HOU, JIA-WOEI;WANG, TSO-REN   +1 more
core  

Abstract 18260: Familial Beals- Hecht Syndrome associated with bicuspid aortic valve and right ventricular apical diverticulum. An unusual combination of congenital defects diagnosed in adulthood by multimodality imaging

, 2015
Introduction: Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder. CCA is phenotypically similar to Marfan syndrome, typically not affecting the aorta or eyes.
Yousefzai, Rayan, Tajik, A. Jamil, Paterick, Timothy, Duarte, Valeria E.   +3 more
core   +1 more source