A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare, if not unique, form of sex-linked ce...

According to classical genetics, a recessive sex-linked or X-linked gene manifests its existence phenotypically only in the absence of its normal allele, that is, in the homozygous state or in the absence of a second X chromosome carrying the normal allele. The latter requirement is met, for instance, in males who have haemophilia as a sex-linked trait: they have only one X chromosome in their ...

We present the CT and B-scan sonographic findings in an infant with juvenile retinoschisis, a rare hereditary eye disease, which usually follows an X-linked recessive inheritance pattern.