Results 101 to 110 of about 240,041 (144)

Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysis.

Lancet Neurol
Parks CA, Singh M, Wohler E, Martin R, Peeters S, Juzwiak EE, Sun X, Loeys BL, Sobreira N, Baldock C, Schievink WI, Dietz HC.   +11 more
europepmc   +1 more source

Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report. [PDF]

Children (Basel)
Illés A, Pikó H, Bartek V, Szepesi O, Rudas G, Benkő Z, Harmath Á, Kósa JP, Beke A.   +8 more
europepmc   +1 more source

Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease. [PDF]

Interdiscip Cardiovasc Thorac Surg
Lee H, Kim Y, Kim MS, Lee KA, Song SW.
europepmc   +1 more source

Congenital Contractural Arachnodactyly (Beals Syndrome)

, 2008
HWU, WUH-LIANG, 胡務亮
core  

Congenital contractural arachnodactyly : delineation of clinical criteria

, 2016
Blair, E, Igbokwe, R, Suri, M, Stolte-Dijkstra, I, Dali, CI, Yadav, D, De Paepe, Anne, Petit, F, Topa, A, Symoens, Sofie, Bayat, A, Keymolen, K, Stolte-Dijstra, I, Meerschaut, Ilse, Willems, P, De Backer, Julie, Oosterwijk, JC, Lynch, S, Berland, S, Callewaert, Bert, Collins, A, Thomas, E, Male, A, Cheryl, L, Laitinen, V, Mckenzie, F, Coucke, Paul, De Coninck, Shana, Garcia Minaur, S, Steyaert, Wouter, Jones, G, Destree, A   +31 more
core  

Congenital Contractural Arachnodactyly

Acta Orthopaedica, 1976
Five cases of congenital contractural arachnodactyly (CCA) are reported. Three belong to the one family. CCA has often been mistaken for Marfan's disease and arthrogrypois multiplex. Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.
Ingjald Bjerkreim, I Bjerkreim
exaly   +6 more sources

The clinical spectrum of congenital contractural arachnodactyly

European Journal of Pediatrics, 1974
A case of congenital contractural arachnodactyly with severe cardiovascular malformations is described. This case and two other reports of CCA with congenital heart disease from the literature indicate a wider spectrum of clinical manifestations in CCA than generally assumed.
Chirane Viseskul, Jürgen Herrmann
exaly   +4 more sources

Congenital Contractural Arachnodactyly

Archives of Pediatrics & Adolescent Medicine, 1979
Sir .—I read with interest the article in theJournal(133:639-640, 1979) concerning congenital contractural arachnodactyly (CCA) as I have also studied a case diagnosed at birth. As a matter of record, the patient was born Oct 17, 1977, and was recognized at that time as having most of the features as described in the syndrome of CCA.
Nai-Kiong Ho
core   +5 more sources

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   +3 more sources