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The neuropathological investigations performed in two patients showed a combination of dysplastic lesions (neuronal heterotopias) and encephaloclastic changes consisting of small foci of necrosis with microcalcifications. The mother of a third child had severe trauma during her 2nd month of pregnancy. Based on a review of the literature on MS and CFZS, we suggest designating as \u201cRobin\u2013M\u00f6bius phenotype\u201d a distinct clinical variant of MS with extensive brainstem involvement, Robin complex, hypotonia without specific muscle disorder, clubfeet and variable acral anomalies. This condition appears to bear a higher risk of mental handicap and perhaps a higher recurrence risk than \u201ccommon\u201d MS. Neuropathology and neuroimaging are suggestive, at least in some cases, of a vascular disruption, which could be exogenous, or secondary to a genetic predisposition. Etiologic heterogeneity seems likely and, in that respect, the original CFZS family could represent a private syndrome fitting on the \u201cRobin\u2013M\u00f6bius\u201d spectrum. Despite the existence of two familial reports, recurrence risk is probably much lower than 25%, although exact figures cannot be extracted from the available literature. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20687","type":"journal-article","created":{"date-parts":[[2004,5,5]],"date-time":"2004-05-05T21:06:07Z","timestamp":1083791167000},"page":"277-287","source":"Crossref","is-referenced-by-count":17,"title":["M\u00f6bius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey\u2013Fineman\u2013Ziter 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