The pattern of congenital developmental defects in a patient described by Toriello et a1 [1986] in a recent supplement to the American Journal of Medical Genetics is strongly reminiscent of the so-called acrocallosal syndrome (ACS) [for review see Schinzel and Kaufmann, 1986; Schinzel, 19881. The following findings mentioned by Toriello et al. are common to the ACS; large anterior fontanelle, hypertelorism, wide nasal tip, low-set ears, postaxial polydactyly of fingers, duplication of big toes, &genesis of the corpus callosum. Findings less consistent in the ACS, but observed in at least single cases, included cryptorchidism, duplication of thumbs or bifid thumbs, short femora, short tibiae, cleft soft palate, posterior fossa cyst.
So far not reported in the ACS were the following findings in the case studied by Toriello et al: a complete Dandy Walker malformation; midline notch of upper lip (although this finding was present in an unreported case). All major diagnostic criteria of ACS are present in the patient of Toriello et al.
The number of cases reported with ACS is still small, and new manifestations are added to the spectrum of that syndrome with every new report. Two instances of two patients in one family indicated a high intrafamilial variability of associated malformations [Schinzel and Kaufmann, 1986; Schinzel, 19871. Although not every finding of the patient of Toriello et al. was already described in earlier case reports, the pattern of congenital anomalies is strikingly similar to that in the ACS, and one may suggest that the above mentioned patient is another example of that syndrome. The major implication of such a classification is obviously the recurrence risk for affected sibs which would be as high as 25%.