Characterization of a group unrelated patients with arthrogryposis multiplex congenita

Jornal de Pediatria - Tập 92 - Trang 58-64 - 2016
Margarita Valdés-Flores1, Leonora Casas-Avila1, Edgar Hernández-Zamora1, Susana Kofman2, Alberto Hidalgo-Bravo1
1Genetics Department, Instituto Nacional de Rehabilitación (INR), Mexico City, Mexico
2Genetics Department, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico

Tài liệu tham khảo

Hall, 2014, Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles, Eur J Med Genet, 57, 464, 10.1016/j.ejmg.2014.03.008 Stilli, 2012, Management of hip contractures and dislocations in arthrogryposis, Musculoskelet Surg, 96, 17, 10.1007/s12306-012-0180-9 Bevan, 2007, Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective, J Pediatr Orthop, 27, 594, 10.1097/BPO.0b013e318070cc76 Hodgson, 1988, Arthrogryposis multiplex congenita of the temporomandibular joint, Oral Surg Oral Med Oral Pathol, 65, 289, 10.1016/0030-4220(88)90111-9 Hall, 1983, Amyoplasia: a common, sporadic condition with congenital contractures, Am J Med Genet, 15, 571, 10.1002/ajmg.1320150407 Sarwark, 1990, Amyoplasia (a common form of arthrogryposis), J Bone Joint Surg Am, 72, 465, 10.2106/00004623-199072030-00027 Swinyard, 1985, The etiology of arthrogryposis (multiple congenital contracture), Clin Orthop Relat Res, 194, 15, 10.1097/00003086-198504000-00004 Børlum, 1984, Amniotic band syndrome in second trimester associated with fetal malformations, Prenat Diagn, 4, 311, 10.1002/pd.1970040412 Del Torto, 1983, Experimental study on the etiology of congenital multiple arthrogryposis, Ital J Orthop Traumatol, 9, 91 Hall, 1982, Teratogens associated with congenital contractures in humans and in animals, Teratology, 25, 173, 10.1002/tera.1420250207 Hall, 1982, The distal arthrogryposes: delineation of new entities – review and nosologic discussion, Am J Med Genet, 11, 185, 10.1002/ajmg.1320110208 Hall, 1982, Three distinct types of X-linked arthrogryposis seen in 6 families, Clin Genet, 21, 81, 10.1111/j.1399-0004.1982.tb00742.x Hall, 1985, In utero movement and use of limbs are necessary for normal growth: a study of individuals with arthrogryposis, Prog Clin Biol Res, 200, 155 Hall, 1985, Genetic aspects of arthrogryposis, Clin Orthop Relat Res, 194, 44, 10.1097/00003086-198504000-00006 Babu, 1990, Anatomy of human genome by restriction endonucleases Alul, Ddel, Haelll, Hinfl, Mobol and Rsal, and their application in clinical cytogenetics, Cytobios, 62, 7 Bendon, 1987, Prenatal diagnosis of arthrogryposis multiplex congenita, J Pediatr, 111, 942, 10.1016/S0022-3476(87)80225-1 Bui, 1992, Prenatal diagnosis of distal arthrogryposis type I by ultrasonography, Prenat Diagn, 12, 1047, 10.1002/pd.1970121211 Robin, 2005, Clefting amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence, Am J Med Genet A, 137A, 298, 10.1002/ajmg.a.30885 Lai, 1991, A new form of autosomal dominant arthrogryposis, J Med Genet, 28, 701, 10.1136/jmg.28.10.701 McCormack, 1980, Autosomal-dominant inheritance of distal arthrogryposis, Am J Med Genet, 6, 163, 10.1002/ajmg.1320060210 Pagnan, 1987, Distal arthrogryposis type II D in three generations of a Brazilian family, Am J Med Genet, 26, 613, 10.1002/ajmg.1320260316 Rivera, 1999, Distal arthrogryposis type IIB: probable autosomal recessive inheritance, Clin Genet, 56, 95, 10.1034/j.1399-0004.1999.560115.x Emy Dorfman, 2015, Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances, J Pediatr (Rio J), 91, 59, 10.1016/j.jped.2014.05.007 Genini, 2004, Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to chromosome 5 by linkage analysis, Mamm Genome, 15, 935, 10.1007/s00335-004-2403-3 Reed, 1985, Chromosomal abnormalities associated with congenital contractures (arthrogryposis), Clin Genet, 27, 353, 10.1111/j.1399-0004.1985.tb02278.x Serville, 1986, Arthrogryposis and 46,XY,t(1;16) chromosome constitution, Clin Genet, 29, 453, 10.1111/j.1399-0004.1986.tb00521.x Hahn, 1985, Arthrogryposis. Pediatric review and habilitative aspects, Clin Orthop Relat Res, 194, 104, 10.1097/00003086-198504000-00015 Williams, 1985, Management of upper limb problems in arthrogryposis, Clin Orthop Relat Res, 194, 60, 10.1097/00003086-198504000-00008 Gilberto Soriano, 1976, Multiple congenital arthrogryposis as a cause of learning and communicating problems, Bol Med Hosp Infant Mex, 33, 179 Gallegos-Rivera, 1991, Congenital multiple arthrogryposis. Clinical and genetic study, Bol Med Hosp Infant Mex, 48, 88