Do novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome?
These results show that ACLS has a variable expressivity and can be diagnosed even in the absence of the two major features, namely polydactyly or agenesis or hypoplasia of the corpus callosum. Facial dysmorphism with hypertelorism and prominent forehead in all the cases, as well as vermis dysgenesis with brainstem anomalies (molar tooth sign), strongly indicated the diagnosis. KIF7 should be tested in less typical patients in whom craniofacial features are suggestive of ACLS.
Use of colon cancer controls may provide valid exposure estimates in studies of many occupational risk factors for cancer, but not for studies on exposure related to farming.