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Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the Langer\u2010Giedion syndrome and involves the <jats:italic>EXT1<\/jats:italic> gene and additional genes located distal to <jats:italic>EXT1<\/jats:italic>, but probably not encompassing the <jats:italic>TRPS1<\/jats:italic> gene located proximal to <jats:italic>EXT1<\/jats:italic>. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10845","type":"journal-article","created":{"date-parts":[[2002,12,2]],"date-time":"2002-12-02T13:52:40Z","timestamp":1038837160000},"page":"326-332","source":"Crossref","is-referenced-by-count":39,"title":["Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion"],"prefix":"10.1002","volume":"113","author":[{"given":"Wim","family":"Wuyts","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Roland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann\u2010Josef","family":"L\u00fcdecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Wauters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Foulon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lionel 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