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They named the condition \u201ctoxopachyost\u00e9ose diaphysaire tibio\u2010p\u00e9roni\u00e8re,\u201d which presently is known as Weismann\u2010Netter syndrome (WNS) (OMIM 112350). Since then more than 100 patients have been published. Nearly all have been case reports in French medical literature, and the first report in the Anglo\u2010American literature appeared in 1988. Only a minority of the publications have appeared during the past two decades. The diagnostic findings of WNS are anterior bowing of the diaphyses of tibia and fibula, broadening or \u201ctibialization\u201d of the fibula and posterior cortical thickening of the two bones. Also the diaphyses of other long bones may be similarly affected but usually to a milder degree. The cause of the condition is unknown, but frequent familial cases suggest a genetic defect with autosomal dominant inheritance. Several of the WNS patients have also had mental retardation (MR), but the existence of a WNS\u2010MR syndrome is still pending. We describe a sporadic patient with typical WNS skeletal findings and MR. He also had postnatal growth deceleration with partially corrective pubertal growth, normal head size and normal brain structures on MRI. We review the WNS literature. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33019","type":"journal-article","created":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T18:17:46Z","timestamp":1255717066000},"page":"2593-2601","source":"Crossref","is-referenced-by-count":2,"title":["Weismann\u2010Netter syndrome and mental retardation: A new patient and review of the literature"],"prefix":"10.1002","volume":"149A","author":[{"given":"Maarit","family":"Peippo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Valanne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marja","family":"Perhomaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Toivanen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaakko","family":"Ignatius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.118.2.314"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.2223\/JPED.1489"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.135.6.1211"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-47-561-618"},{"key":"e_1_2_5_6_1","first-page":"1263","volume-title":"Nelson Textbook of Pediatrics","author":"Azimi P","year":"2007"},{"key":"e_1_2_5_7_1","first-page":"605","article-title":"Aspects radiocliniques de la toxo\u2010pachyost\u00e9ose diaphysaire tibio\u2010p\u00e9roni\u00e8re ou maladie de Weismann\u2010Netter et Stuhl","volume":"58","author":"Babeau P","year":"1977","journal-title":"J Radiol Electrol Med Nucl"},{"key":"e_1_2_5_8_1","first-page":"6085","article-title":"Quel est votre diagnostique","volume":"100","author":"Bardet M","year":"1978","journal-title":"Concours Med"},{"key":"e_1_2_5_9_1","unstructured":"Becker\u2010MulaAM.1974.La toxopachyost\u00e9ose diaphysaire tibio\u2010p\u00e9roni\u00e8re de Weismann\u2010Netter. 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