B. Isidor, V. Cormier-daire, L. Merrer, and M. , Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity, American Journal of Medical Genetics Part A, vol.42, issue.12, pp.1593-1597, 2008.
DOI : 10.1002/ajmg.a.32217

S. Patil, M. Bhat, S. Rao, and R. Krishnan, Spondylocarpotarsal synostosis: A rare case of vertebral segmentation defect, The Indian Journal of Pediatrics, vol.7, issue.4, pp.417-419, 2009.
DOI : 10.1002/ajmg.a.31665

M. Assir and T. Waseem, Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis, Clinical Dysmorphology, vol.21, issue.3, pp.144-147, 2012.
DOI : 10.1097/MCD.0b013e3283543224

A. Kapoor, S. Pradhan, and G. , Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence, JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, vol.7, pp.2031-2032, 2013.
DOI : 10.7860/JCDR/2013/5605.3398

D. Krakow, S. Robertson, and L. King, Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis, Nature Genetics, vol.10, issue.4, pp.405-410, 2004.
DOI : 10.1093/hmg/10.17.1775

J. Reed, S. Greene, and G. , The distal arthrogryposes: delineation of new entities? review and nosologic discussion, Am J Med Genet, vol.11, pp.185-239, 1982.

M. Bamshad, L. Jorde, and J. Carey, A revised and extended classification of the distal arthrogryposes, American Journal of Medical Genetics, vol.53, issue.4, pp.277-281, 1996.
DOI : 10.1136/jmg.31.8.640

R. Beals, The Distal Arthrogryposes, Clinical Orthopaedics and Related Research, vol.31, issue.435, pp.203-210, 2005.
DOI : 10.1097/01.blo.0000157540.75191.1d

D. Alvarado, J. Buchan, C. Gurnett, and M. Dobbs, Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1, The Journal of Bone and Joint Surgery-American Volume, vol.93, issue.11, pp.1045-1050, 2011.
DOI : 10.2106/JBJS.J.02004

A. Beck, M. Mcmillin, and H. Gildersleeve, Spectrum of mutations that cause distal arthrogryposis types 1 and 2B, American Journal of Medical Genetics Part A, vol.54, issue.3, pp.550-555, 2013.
DOI : 10.1016/j.ejmg.2011.03.002

URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581718/pdf

E. Freeman and J. Sheldon, Cranio-carpo-tarsal dystrophy, Archives of Disease in Childhood, vol.13, issue.75, pp.277-283, 1938.
DOI : 10.1136/adc.13.75.277

URL : http://europepmc.org/articles/pmc1975576?pdf=render

D. Stevenson, J. Carey, J. Palumbos, A. Rutherford, J. Dolcourt et al., Clinical Characteristics and Natural History of Freeman-Sheldon Syndrome, PEDIATRICS, vol.117, issue.3, pp.754-762, 2006.
DOI : 10.1542/peds.2005-1219

R. Toydemir, A. Rutherford, F. Whitby, L. Jorde, J. Carey et al., Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome, Nature Genetics, vol.246, issue.5, pp.561-565, 2006.
DOI : 10.1006/jmbi.1994.0070

P. Krakowiak, J. Bohnsack, J. Carey, and M. Bamshad, Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B), American Journal of Medical Genetics, vol.59, issue.1, pp.93-98, 1998.
DOI : 10.1002/ajmg.1320330218

R. Toydemir and M. Bamshad, Sheldon-Hall syndrome, Orphanet Journal of Rare Diseases, vol.4, issue.1, p.11, 2009.
DOI : 10.1186/1750-1172-4-11

URL : https://ojrd.biomedcentral.com/track/pdf/10.1186/1750-1172-4-11?site=ojrd.biomedcentral.com

J. Chong, L. Burrage, and A. Beck, Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3, The American Journal of Human Genetics, vol.96, issue.5, pp.841-849, 2015.
DOI : 10.1016/j.ajhg.2015.04.004

URL : https://doi.org/10.1016/j.ajhg.2015.04.004

S. Sousa, G. Baujat, and V. Abadie, Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome?, American Journal of Medical Genetics Part A, vol.46, issue.3, pp.539-546, 2010.
DOI : 10.1002/ajmg.a.33277

URL : http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33277/pdf

E. Kawira and H. Bender, An unusual distal arthrogryposis, American Journal of Medical Genetics, vol.11, issue.3, pp.425-429, 1985.
DOI : 10.1002/ajmg.1320200302

C. Mckeown and R. Harris, An autosomal dominant multiple pterygium syndrome., Journal of Medical Genetics, vol.25, issue.2, pp.96-103, 1988.
DOI : 10.1136/jmg.25.2.96

P. Prontera, A. Sensi, L. Merlo, G. Garani, G. Cocchi et al., Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form?, American Journal of Medical Genetics Part A, vol.24, issue.20, pp.2227-2230, 2006.
DOI : 10.1002/ajmg.a.31428

J. Frias, J. Holahan, A. Rosenbloom, and A. Felman, An autosomal dominant syndrome of multiple pterygium, ptosis, and skeletal abnormalities, Proceedings of the Fourth International Conference on Birth Defects, 1973.

G. Zampino, G. Conti, F. Balducci, M. Moschini, M. Macchiaiolo et al., Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss, American Journal of Medical Genetics, vol.55, issue.3
DOI : 10.1007/BF00291765

E. Thompson, D. Donnai, M. Baraitser, C. Hall, M. Pembrey et al., Multiple pterygium syndrome: evolution of the phenotype., Journal of Medical Genetics, vol.24, issue.12, pp.733-749, 1987.
DOI : 10.1136/jmg.24.12.733

D. Rocco, D. Zieger, B. Platokouki, and H. , MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations, European Journal of Medical Genetics, vol.56, issue.1, pp.7-12, 2013.
DOI : 10.1016/j.ejmg.2012.10.009

H. Tajsharghi and A. Oldfors, Myosinopathies: pathology and mechanisms, Acta Neuropathologica, vol.359, issue.Pt 6, pp.3-18, 2013.
DOI : 10.1098/rstb.2004.1527

URL : https://link.springer.com/content/pdf/10.1007%2Fs00401-012-1024-2.pdf

X. Zhu, F. Wang, and Y. Zhao, A Gain-of-Function Mutation in Tnni2 Impeded Bone Development through Increasing Hif3a Expression in DA2B Mice, PLoS Genetics, vol.48, issue.10, p.1004589, 2014.
DOI : 10.1371/journal.pgen.1004589.s022

J. Zhang, O. Lazarenko, and M. Blackburn, Feeding Blueberry Diets in Early Life Prevent Senescence of Osteoblasts and Bone Loss in Ovariectomized Adult Female Rats, PLoS ONE, vol.24, issue.1, p.24486, 2011.
DOI : 10.1371/journal.pone.0024486.s007

Y. Hinits, V. Williams, and D. Sweetman, Defective cranial skeletal development, larval lethality and haploinsufficiency in Myod mutant zebrafish, Developmental Biology, vol.358, issue.1, pp.102-112, 2011.
DOI : 10.1016/j.ydbio.2011.07.015

URL : https://doi.org/10.1016/j.ydbio.2011.07.015