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Genet."],"published-print":{"date-parts":[[1993,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Brachmann\u2010de Lange syndrome (BDLS) is a well\u2010delineated disorder consisting variably of pre\u2010 and postnatal growth deficiency, microbrachycephaly, characteristic face, hypertrichosis, visceral anomalies, and limb defects consisting primarily of variable limb reduction defects, micromelia, and elbow abnormalities. The course is usually marked by initial hypertonicity, low\u2010pitched weak cry, feeding problems, and behavioral problems with marked mental deficiency. In classical cases there is rarely any difficulty in making the diagnosis but for mildly affected cases, it may be difficult to feel secure about the diagnosis. In an effort to increase the precision of diagnosis for mildly affected cases, we reviewed roentgenograms in 21 cases of Brachmann\u2010de Lange syndrome, as well as previously published descriptions of the radiological manifestations. Unusual radiologic manifestations were related primarily to the limb anomalies, and these were often asymmetric. These manifestations included digital abnormalities, which ranged from acheiria to oligodactyly, hypoplasia of the thumb and first metacarpal, clinodactyly of the fifth finger, or ectrodactyly. Long bone abnormalities included ulnar a\/hypoplasia, dysplasia of the radial head, or fusion of the elbow. When there was a single forearm bone, there was often fusion at the elbow and oligodactyly, which made it difficult to determine whether the radius or ulna was absent. Other radiologic manifestations included 13 ribs with precocious sternal fusion, and micrognathia. We suggest that these radiologic manifestations could increase diagnostic precision in mildly affected cases. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470714","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:12:04Z","timestamp":1118509924000},"page":"1006-1013","source":"Crossref","is-referenced-by-count":36,"title":["Radiological features in Brachmann\u2010de Lange syndrome"],"prefix":"10.1002","volume":"47","author":[{"given":"Stephen R.","family":"Braddock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy Charman","family":"Stoppenhagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie","family":"Ireland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Moeschler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Cunniff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"225","article-title":"Ein Fall von symmetrischer Monodactylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbogen, sowie anderen Abnormalitaten","volume":"84","author":"Brachmann W","year":"1916","journal-title":"JB Kinderheilk Phys Erzieh"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120320027005"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470716"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.129.1.156"},{"key":"e_1_2_1_6_1","first-page":"713","article-title":"Sur un type nouveau de degeneration (Typus Amstelodamensis)","volume":"36","author":"de Lange C","year":"1933","journal-title":"Arch Med Enf"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/j.1399-0004.1986.tb00824.x","article-title":"On the nosology of the Cornelia de Lange and Coffinsiris syndromes. 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