Severe, non X-linked congenital microcephaly with absence of the pyramidaltracts in two siblings

In two siblings (a female and a male neonate), severe microcephaly, bilater al absence of the pyramids, severe hypoplasia of the cerebral peduncles, an d dysplasia of the inferior olives was found together with microphthalmia, facial malformations and multiple contractures of the extremities. In both cases, the cerebral hemispheres otherwise showed a more or less normal gyra l pattern with the insula incompletely covered by the opercula, and a tom b ut otherwise intact corpus callosum. In case 2, congenital cataract was als o observed. The present cases can be characterized as a rapidly fatal, fami lial syndrome, probably transmitted as an autosomal recessive trait, and ha ve several features in common with the Neu-Laxova syndrome. They differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cer ebellar abnormalities, and no other organ malformations. The present cases belong to a group of heterogeneous syndromes which have microcephaly, ocula r and facial malformations, multiple contractures, and ichthyosis-like skin in common.