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Care should be used making the diagnosis because of the implications for recurrence, natural history, associated anomalies, and both etiology and pathogenesis. We reviewed over 600 published reports and 2,500 individual records to identify the 560 individuals reported here. Affected limbs had characteristic positions with fatty\u2013fibrous replacement of muscle. Upper limb involvement was usually characterized by extended elbows. Lower limbs were held in various positions at birth; however, equinovarus positioning of feet was almost always present. Symmetric involvement was common. Among 560 affected individuals, subtypes were identified: four\u2010limb symmetric involvement (331\/560\u2009=\u200955.9%), severe involvement (41\/560\u2009=\u20097.3%), three\u2010limb involvement (27\/560\u2009=\u20094.8%), upper limb only Amyoplasia (ULA; 94\/560\u2009=\u200916.8%), and lower limb only Amyoplasia (LLA; 25\/560\u2009=\u200915.5%). Discordant monozygotic twinning was increased, occurring in 6.6% (37\/560; OR 10.9). A variety of additional anomalies were seen, attributed to apparent vascular compromise. Gastrointestinal vascular compromise\u2010type anomalies were present in 9.1% (51\/560), trunk muscle defects in another 2.7% (15\/560), digit compromise in 12.1% (68\/560), constriction rings in 4.3% (24\/560), and perinatal long bone fractures in 10.5% (59\/560). Although prenatal ultrasound became the standard of care in 1990, only about one quarter of affected pregnancies were diagnosed prenatally since 1990. Amyoplasia appears to be completely sporadic. Novel pathogenetic mechanisms for the congenital anomalies seen in Amyoplasia need to be identified. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36395","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:40:59Z","timestamp":1390520459000},"page":"700-730","source":"Crossref","is-referenced-by-count":112,"title":["Amyoplasia revisited"],"prefix":"10.1002","volume":"164","author":[{"given":"Judith G.","family":"Hall","sequence":"first","affiliation":[{"name":"Departments of Medical Genetics and Pediatrics University of British Columbia and BC Children's Hospital Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly A.","family":"Aldinger","sequence":"additional","affiliation":[{"name":"Center for Integrative Brain Research Seattle Children's Research Institute Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimi I.","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics and Pediatrics University of British Columbia and BC Children's Hospital Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,1,23]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Diseases of muscle: A study in pathology","author":"Adams RD","year":"1953"},{"key":"e_1_2_6_3_1","first-page":"10","article-title":"Complications of pregnancy, active component females, U.S. Armed Forces, 2001\u20132010","volume":"18","author":"Armed Forces Health Surveillance Center (AFHSC)","year":"2011","journal-title":"MSMR"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2337\/dc09-1801"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1071-9091(00)80005-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2011.01.007"},{"key":"e_1_2_6_7_1","volume-title":"Cancer facts & figures 2012","author":"American Cancer Society","year":"2012"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e31820cad93"},{"key":"e_1_2_6_9_1","first-page":"421","article-title":"Amyoplasia congenita; review of literature and report of three individuals","volume":"75","author":"Awwaad S","year":"1958","journal-title":"Arch Pediatr"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199707000-00005"},{"key":"e_1_2_6_11_1","first-page":"329","article-title":"Amyoplasia congenita","volume":"100","author":"Banker NL","year":"2002","journal-title":"J Indian Med Assoc"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509579102"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.5435\/00124635-200211000-00006"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e318070cc76"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32596"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)03202-4"},{"key":"e_1_2_6_17_1","first-page":"49","article-title":"Congenital deformities of mechanical origin","volume":"29","author":"Browne D","year":"1936","journal-title":"Proc Royal Soc Med"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2011.10.013"},{"key":"e_1_2_6_19_1","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/00003086-198504000-00016","article-title":"Arthrogryposis multiplex congenita. 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