{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T10:59:31Z","timestamp":1793012371644,"version":"4.5.0"},"reference-count":62,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7003,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A hypothesis is presented to explain the pathogenesis of the Poland, Klippel\u2010Feil, and M\u00f6bius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and\/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term<jats:italic>subclavian artery supply disruption sequence<\/jats:italic>(SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320230405","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:36Z","timestamp":1118520216000},"page":"903-918","source":"Crossref","is-referenced-by-count":498,"title":["Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel\u2010Feil, and M\u00f6bius anomalies"],"prefix":"10.1002","volume":"23","author":[{"given":"Jan N. Bouwes","family":"Bavinck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David D.","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1000010102"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1091110207"},{"key":"e_1_2_1_4_1","first-page":"166","article-title":"Congenital absence of the pectoral muscles. A review of twenty\u2010five patients","volume":"119","author":"Beals RK","year":"1976","journal-title":"Clin Orthop"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.107.3.526"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.1.70"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496922"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.28.5.718"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00127.x"},{"key":"e_1_2_1_10_1","first-page":"47","article-title":"Transformation of the aortic\u2010arch system during the development of the human embryo","volume":"14","author":"Congdon ED","year":"1922","journal-title":"Carnegie Inst Wash Contrib Embryol (Publ 277)"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100089210"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197209072871004"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-36-428-562"},{"key":"e_1_2_1_14_1","first-page":"103","volume-title":"Poland syndrome: A concept of pathogenesis based on limb bud embryology","author":"Goldberg MJ","year":"1977"},{"key":"e_1_2_1_15_1","first-page":"125","volume-title":"Advances in Teratology","author":"Grabowski CT","year":"1970"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80640-8"},{"key":"e_1_2_1_17_1","first-page":"373","article-title":"Congenital fusion of the cervical vertebrae","volume":"118","author":"Gray SW","year":"1964","journal-title":"Surg Gynecol Obstet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80499-9"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130310"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/62.4.381"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.2106\/00004623-197456060-00018","article-title":"Klippel\u2010Feil syndrome: A constellation of associated anomalies","volume":"56","author":"Hensinger RN","year":"1974","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80640-3"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80343-0"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.2106\/00004623-198062070-00009","article-title":"Vascular dysgenesis associated with skeletal dysplasia of the lower limb","volume":"62","author":"Hootnick DR","year":"1980","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_25_1","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1097\/00003086-198207000-00022","article-title":"Congenital arterial malformations associated with clubfoot. A report of two cases","volume":"167","author":"Hootnick DR","year":"1982","journal-title":"Clin Orthop"},{"key":"e_1_2_1_26_1","first-page":"327","volume-title":"Limb Development and Regeneration","author":"Hootnick DR","year":"1983"},{"key":"e_1_2_1_27_1","first-page":"52","article-title":"Poland's syndrome. A review of forty\u2010three cases","volume":"58","author":"Ireland DCR","year":"1976","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1159\/000144714"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1971.35.3.0253"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1000010204"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(66)90004-2"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010108"},{"key":"e_1_2_1_33_1","first-page":"41","article-title":"Brain pathology following fetal vascular occlusion: An experimental study","volume":"8","author":"Myers RE","year":"1969","journal-title":"Invest Opththalmol"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00315559"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100057376"},{"key":"e_1_2_1_36_1","first-page":"207","article-title":"The development of the cranial arteries in the human embryo","volume":"212","author":"Padget DH","year":"1948","journal-title":"Carnegie Inst Wash Contrib Embryol (Publ 575)"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80368-8"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.4.317"},{"key":"e_1_2_1_39_1","volume-title":"Atlas of Topographical and Applied Human Anatomy, Volume J, Head and Neck","author":"Pernkopf E","year":"1980"},{"key":"e_1_2_1_40_1","volume-title":"Topographische Anatomic des Menschen. Lehrbuch und Atlas der Regionarstratigraphischen Praparation, III Band, Der Hals","author":"Pernkopf E","year":"1952"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(73)90070-4"},{"key":"e_1_2_1_42_1","first-page":"191","article-title":"Deficiency of the pectoralis muscles","volume":"6","author":"Poland A","year":"1841","journal-title":"Guy's Hosp Rep"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196111022651804"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-195335020-00017"},{"key":"e_1_2_1_45_1","first-page":"173","article-title":"DiGeorge's or the III\u2010IV pharyngeal pouch syndrome: Pathology and a theory of pathogenesis","volume":"2","author":"Robinson HB","year":"1975","journal-title":"Perspect Pediatr Pathol"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170213"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348948309200222"},{"key":"e_1_2_1_48_1","first-page":"23","article-title":"The early development of the human vertebral column","volume":"33","author":"Sensenig EC","year":"1949","journal-title":"Carnegie Inst Wash Contrib Embryol (Publ 583)"},{"key":"e_1_2_1_49_1","first-page":"143","article-title":"The development of the occipital and cervical segments and their associated structures in human embryos","volume":"36","author":"Sensenig EC","year":"1957","journal-title":"Carnegie Inst Wash Contrib Embryol (Publ 611)"},{"key":"e_1_2_1_50_1","first-page":"369","article-title":"Clinical and roentgenological manifestations of the Klippel\u2010Feil syndrome (congenital fusion of the cervical vertebrae, brevicollis)","volume":"68","author":"Shoul MI","year":"1952","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420080103"},{"key":"e_1_2_1_52_1","volume-title":"Recognizable Patterns of Human Malformation. Genetic, Embryologic and Clinical Aspects","author":"Smith DW","year":"1982"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80261-8"},{"key":"e_1_2_1_54_1","first-page":"XIII","volume-title":"Atlas of Human Embryology","author":"Stephens TD","year":"1980"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.3109\/17453678109050122"},{"key":"e_1_2_1_56_1","first-page":"82","volume-title":"The Genetics of Hand Malformations","author":"Temtamy SA","year":"1978"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1977.00500140078018"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80342-9"},{"key":"e_1_2_1_59_1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.3928\/00904481-19810601-06","article-title":"Fetal vascular disruptions: Mechanisms and some resulting birth defects","volume":"10","author":"Van Allen MI","year":"1981","journal-title":"Pediatr Ann"},{"key":"e_1_2_1_60_1","volume-title":"Congenital Malformations: Notes and Comments","author":"Warkany J","year":"1971"},{"key":"e_1_2_1_61_1","first-page":"111","volume-title":"Handbook of Clinical Neurology: Congenital Malformations of the Spine and Spinal Cord","author":"Wilkinson M","year":"1978"},{"key":"e_1_2_1_62_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348948109000303"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-198405000-00006"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320230405","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320230405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T16:20:32Z","timestamp":1735748432000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320230405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,4]]},"references-count":62,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1986,4]]}},"alternative-id":["10.1002\/ajmg.1320230405"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320230405","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,4]]}}}