Results 121 to 130 of about 598 (144)

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

Fibrillin-2 Mutations in Congenital Contractural Arachnodactyly

, 2004
Maurice Godfrey
openaire   +2 more sources

Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly

American Journal of Medical Genetics, 1992
AbstractCongenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct “crumpled ear” deformity.
E, Bawle, M H, Quigg
openaire   +2 more sources

Congenital contractural arachnodactyly (Beals syndrome).

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2000
Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome. CCA is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears.
P H, Su, J W, Hou, W L, Hwu, M H, Wu, J K, Wang, T R, Wang   +5 more
openaire   +1 more source

Congenital contractural arachnodactyly in a black African kindred.

The Central African journal of medicine, 1992
Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus, crumpled auricles and in some kindreds, progressive kyphoscoliosis. An extensive kindred with many affected members is described.
S, Wainer, E T, Vos
openaire   +1 more source

Congenital contractural arachnodactyly: description of a new kindred.

Arthritis and rheumatism, 1979
A previously unreported case of congenital contractural arachnodactyly (CCA) is described. This hereditary connective tissue abnormality resembles Marfan's syndrome in certain respects, but is characterized by camptodactyly rather than joint laxity, as well as by congenital contractural deformities of the knees and elbows.
R T, Mirise, S, Shear
openaire   +1 more source

Congenital contractural arachnodactyly

2009
Yuranga Weerakkody, Daniel Bell, Tom Foster   +2 more
openaire   +1 more source

Congenital contractural arachnodactyly Report of four additional families and review of literature

Clinical Genetics, 1985
David D Weaver, Rodney K Beals
exaly  

A severe form of congenital contractural arachnodactyly in two newborn infants

American Journal of Medical Genetics Part A, 1986
G Currarino, Jan M Friedman
exaly  

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

Human Mutation, 2009
Bert Callewaert, Bart Loeys, Odile Boute   +2 more
exaly