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We report two cases of sacral myelomeningocele associated with a conotruncal cardiac anomaly or \u201cKousseff syndrome.\u201d The first case, a 4\u2010year\u2010old girl, had a sacral myelomeningocele, tetralogy of Fallot, microcephaly, hydrocephalus, hypoplasia of the corpus callosum and mild\u2013moderate developmental delay. Chromosome 22q11.2 FISH was normal and the facial phenotype was not that of velocardiofacial syndrome. Sequencing of the entire coding region of <jats:italic>CITED2<\/jats:italic> did not reveal a mutation. The second case, a male infant, was found to have a 22q11.2\u2010microdeletion. These cases confirm Kousseff syndrome to be a causally heterogeneous disorder. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20418","type":"journal-article","created":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T09:00:27Z","timestamp":1072947627000},"page":"307-312","source":"Crossref","is-referenced-by-count":16,"title":["Kousseff syndrome: A causally heterogeneous 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