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The X\u2010linked form is caused by mutations in the <jats:italic>MID1<\/jats:italic> gene, while no gene has yet been identified for the autosomal dominant form. Here, we report on a 15\u2010year\u2010old boy who was referred for <jats:italic>MID1<\/jats:italic> mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay. No <jats:italic>MID1<\/jats:italic> mutation was found, but subsequent sub\u2010megabase resolution array CGH unexpectedly documented a 2.34 Mb terminal 4p deletion, suggesting a diagnosis of WHS, and a duplication in Xp22.31. Wolf\u2013Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving terminal chromosome 4p deletions, in particular 4p16.3. WHS is characterized by typical facial appearance (\u201cGreek helmet facies\u201d), mental retardation, congenital hypotonia, and growth retardation. While the severity of developmental delay in this patient supports the diagnosis of WHS rather than OS, this case illustrates the striking similarities of clinical findings in seemingly unrelated syndromes, suggesting common or interacting pathways at the molecular and pathogenetic level. This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32055","type":"journal-article","created":{"date-parts":[[2007,12,12]],"date-time":"2007-12-12T00:20:58Z","timestamp":1197418858000},"page":"103-109","source":"Crossref","is-referenced-by-count":3,"title":["Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G\/BBB syndrome and Wolf\u2013Hirschhorn 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