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Based on their characteristics, we propose that nuchal cysts are signs of four causally and pathogenetically different entities: 1) cystic nuchal blebs present in otherwise normal fetuses as a postmortem change; 2) 45,X fetuses who have a particular appearance and multiple congenital malformations; 3) an apparently autosomal recessive syndrome of multiple cysts (that extend into deep muscular planes), generalized edema, cleft palate, peculiar skeletal characteristics, acutely angulated ribs (producing a bell\u2010shaped rib cage), and shortened long bones; and 4) in fetuses with syndromes that are inherited (multiple pterygium, Roberts) and chromosomal (trisomy 13, trisomy 21) as an unspecific sign representing both primary and secondary lesions.<\/jats:p>","DOI":"10.1002\/ajmg.1320210303","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:59:15Z","timestamp":1118519955000},"page":"417-432","source":"Crossref","is-referenced-by-count":23,"title":["Nuchal cysts syndromes: Etiology, pathogenesis, and prenatal diagnosis"],"prefix":"10.1002","volume":"21","author":[{"given":"B. 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