Results 141 to 150 of about 3,083 (188)

Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome. [PDF]

Genes (Basel)
Stathori G, Koniari E, Vlachakis D, Papanikolaou E, Chrousos GP, Yapijakis C.   +5 more
europepmc   +1 more source

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights. [PDF]

Hum Genome Var
Kido J, Ueno H, Misumi Y, Sugawara K, Saito S, Koshimizu E, Matsumoto N, Ueda M, Nakamura K.   +8 more
europepmc   +1 more source

Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome. [PDF]

Front Pediatr
Qiao X, Chen Y, Su D, Shang L, Pang Y.
europepmc   +1 more source

A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report. [PDF]

Front Pediatr
Almabyouq FJ, Abualsaud ZF, Alabbas RMA.
europepmc   +1 more source

Rheumatic and musculoskeletal disorders in musicians: risks, adaptations and management. [PDF]

RMD Open
Autret L, Shipley É, Lodde B, Hinojosa-Azaola A, Saraux A.   +4 more
europepmc   +1 more source

Perioperative Care of a Pediatric Patient With Beals Syndrome. [PDF]

J Med Cases
Wrona A, Holladay J, Tobias JD.
europepmc   +1 more source

Congenital contractural arachnodactyly syndrome

core   +1 more source

[ARACHNODACTYLY].

Pediatria polska, 1996
openaire   +1 more source

Congenital contractural arachnodactyly

, 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, 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   +30 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   +4 more sources