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The molecular basis is unknown and autosomal dominant inheritance with variable expressivity is currently postulated. Hirschsprung disease was reported previously in one case. We report here on a new case of mesomelic dysplasia Werner type associated with Hirschsprung disease and bilateral cryptorchidism. We discuss the overlap with the triphalangeal thumb polysyndactyly syndrome located in chromosome 7q36. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20285","type":"journal-article","created":{"date-parts":[[2003,10,30]],"date-time":"2003-10-30T11:22:03Z","timestamp":1067512923000},"page":"186-189","source":"Crossref","is-referenced-by-count":10,"title":["Werner mesomelic dysplasia with Hirschsprung disease"],"prefix":"10.1002","volume":"123A","author":[{"given":"Alice","family":"Goldenberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Milh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"de Lagausie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renaud","family":"Mesnage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatiha","family":"Benarif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Christine","family":"De Blois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.729"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<399::AID-AJMG6>3.0.CO;2-A"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-67"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00482.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6225"},{"key":"e_1_2_4_7_1","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1093\/genetics\/159.2.715","article-title":"Reciprocal mouse and human limb phenotypes caused by gain and loss of function mutations affecting lmbr1","volume":"159","author":"Clark RM","year":"2001","journal-title":"Genetics"},{"key":"e_1_2_4_8_1","first-page":"275","article-title":"Congenital absence of the tibiae and thumbs with polydactyly. 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