Results 161 to 170 of about 1,472 (192)

Congenital contractural arachnodactyly

The British Journal of Radiology, 1985
Congenital Contractural Arachnodactyly (CCA) has emerged as a separate entity from Marfan's syndrome (Beals & Hecht, 1971, Hecht & Beals, 1972, Macleod & Clarke Fraser, 1973). Indeed Marfan's original patient in 1896 is now thought to be an example of CCA. The features are multiple joint contractures, arachnodactyly, dolichostenomelia (long, thin limbs)
R C, Travis, D G, Shaw
openaire   +2 more sources

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations

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

Prenatal Diagnosis in Congenital Contractural Arachnodactyly

Genetic Testing, 1997
Congenital contractural arachnodactyly (CCA) is a heritable connective tissue disorder caused by defects in the gene encoding fibrillin-2 (FBN2). People with CCA typically have a marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. Because of the relative infrequency of the syndrome and its generally
S, Belleh, L, Spooner, J, Allanson, M, Godfrey   +3 more
openaire   +2 more sources

A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly.

Clinical Dysmorphology, 2018
Received 13 November 2017 Accepted 22 January 2018 Congenital contractural arachnodactyly (CCA) (OMIM #121050; OMIM) also known as Beals syndrome (Beals–Hecht syndrome) is a rare multiple congenital anomaly syndrome characterized by a Marfan-like ...
A. Gürler, Z. Yüksel, K. Karaer
semanticscholar   +1 more source

Clinical Features of Congenital Contractural Arachnodactyly

Congenital Anomalies, 1993
ABSTRACT Clinical features of 11 cases of congenital contractural arachnodactyly (CCA) were reported. Eight cases were male and 3 cases were female. Family history was positive in 6 cases of 3 families. As for hand deformity, flexion of the finger, adduction of the thumb and shortening of the palmar skin were observed in all cases, arachnodactyly in ...
Toshihiko OGINO, Hiroyuki KATO, Itaru OHSHIO, Masatoshi TAKAHARA   +3 more
openaire   +1 more source

Congenital contractural arachnodactyly with unilateral lower limb deficiency

American Journal of Medical Genetics, 1992
AbstractWe report an infant with congenital contractural arachnodactyly and a unilateral lower limb deficiency. © 1992 Wiley‐Liss, Inc.
T R, Cole, H E, Hughes
openaire   +2 more sources

Bilateral Congenital Vertical Talus in Association with Beals Contractural Arachnodactyly: A Case Report

JBJS Case Connector, 2018
Case: Congenital vertical talus (CVT) is a rare rigid flatfoot disorder with a rocker-bottom flatfoot appearance. It is characterized by hindfoot valgus and equinus, with associated midfoot dorsiflexion and forefoot abduction.
H. Morris, P. Navarre
semanticscholar   +1 more source

"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.

Pediatrics, 1972
Congenital contractural arachnodactyly (CCA) is a newly delineated disease. Several CCA families are described. Key features of CCA are multiple congenital joint contractures, arachnodactyly, "crumpled" ears, and kyphoscoliosis.
F. Hecht, R. K. Beals
semanticscholar   +1 more source

Cardiac Defects in a Patient With Congenital Contractural Arachnodactyly

Southern Medical Journal, 1985
Congenital contractural arachnodactyly (CCA) is a connective tissue disorder sharing many of the clinical manifestations of Marfan's syndrome. The case presented emphasizes that severe cardiac involvement may be manifested in the neonate with CCA, thus altering the more characteristic benign prognosis of CCA.
R E, Bell, J J, Wheller
openaire   +2 more sources

[A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
Xiaolan Tan, Xiang-you Leng, D. Tao, Yuan Yang, Yunqiang Liu   +4 more
semanticscholar   +1 more source