{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:26:39Z","timestamp":1760783199897},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T00:00:00Z","timestamp":1255651200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, short stature, amenorrhea, and secondary skeletal abnormalities mimicking a metaphyseal chondrodysplasia. To date all reported cases have been sporadic. We describe a 26\u2010year\u2010old Mexican woman, a product of consanguineous parents with clinical characteristics of SS. Our patient, also showed skeletal anomalies not previously reported that seems to be a coincidental finding. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32751","type":"journal-article","created":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T18:17:36Z","timestamp":1255717056000},"page":"2448-2451","source":"Crossref","is-referenced-by-count":10,"title":["Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity"],"prefix":"10.1002","volume":"149A","author":[{"given":"C.A.","family":"Venegas\u2010Vega","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.","family":"Rivera\u2010Vega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Cuevas\u2010Covarrubias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Orozco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kofman\u2010Alfaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"94","article-title":"Satoyoshi syndrome","volume":"52","author":"Ashalatha R","year":"2004","journal-title":"Neurol India"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10037"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21088"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570421"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000067994.01098.A5"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050158"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.37.784"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-199311000-00022"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00198390"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992280304200811"},{"key":"e_1_2_4_12_1","first-page":"612","article-title":"A case of \u201csyndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)\u201d treated with steroid pulse therapy","volume":"32","author":"Kuru S","year":"1992","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_4_13_1","first-page":"205","article-title":"Multiple metaphyseal lesions in a child with a syndrome of progressive muscle cramps, alopecia and stunted growth (Satoyoshi disease)","volume":"1","author":"Matsuo N","year":"1983","journal-title":"Radiat Med"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870090118"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.135.1.91"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.9.1209"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.5.458"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470210030004"},{"key":"e_1_2_4_19_1","first-page":"93","article-title":"Satoyoshi disease (generalized komuragaeri disease) associated with bilateral gastrocnemius hyperthophy","volume":"41","author":"Tajima Y","year":"1994","journal-title":"Shinkei Naika"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2001.01966.x"},{"key":"e_1_2_4_21_1","first-page":"79","article-title":"A case of generalized Komuragaeri disease (Satoyoshi disease) treated with glucocorticoid","volume":"31","author":"Yamagata T","year":"1991","journal-title":"Rinsho Shinkeigaku"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32751","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32751","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:36:47Z","timestamp":1697632607000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32751"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,28]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["10.1002\/ajmg.a.32751"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32751","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,28]]}}}