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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM. Callewaert BL, et al. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Hum Mutat. 2009. PMID: 19006240 Review.
Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. ...Whereas the dilatation regressed in one proband, it remained …
Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder …
Trismus-pseudocamptodactyly syndrome: a 20 year follow-up.
Marianetti TM, Dall'Asta L, Torroni A, Gasparini G, Pelo S. Marianetti TM, et al. Eur J Paediatr Dent. 2014 Jul;15(2 Suppl):218-20. Eur J Paediatr Dent. 2014. PMID: 25101507
CASE REPORT: A 22-year- old girl affected by a severe form of TPS was followed from the age of three years. Bone reossification was observed after two coronoidotomies of both hyperplasic coronoid processes. ...
CASE REPORT: A 22-year- old girl affected by a severe form of TPS was followed from the age of three years. Bone reossification was obser …