The acrocallosal syndrome: expansion of the phenotypic spectrum

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A family demonstrating the acrocallosal syndrome in a female proband whose sister had anecephaly is described. Two cases were found in the literature (Gelman-Kohan et al., 1991; Cataltepe and Tuncbilek, 1992). Analysis of the multiplex family data suggests that anecephaly may be an extreme manifestation of the spectrum of brain anomalies associated with the acrocallosal syndrome.

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