Cerebellar Hypoplasia

Crouzon (1929) and Sarrouy et al. (1957) reported 2 pairs of sibs with congenital cerebellar hypoplasia. Norman and Urich (1958) noted parental consanguinity in an isolated case. Wichman et al. (1985) reported 3 pairs of affected sibs in unrelated families. All 6 presented within the first 6 months of life with delayed motor and language development. Mathews et al. (1989) also described autosomal recessive cerebellar hypoplasia. Dooley et al. (1992) reported 2 sisters with cerebellar hypoplasia who also had nonprogressive retinal pigmentary disease. They pointed out that 1 of the 2 sibs reported by Mathews et al. (1989) had bilateral retinal pigmentary changes.

It is not certain that the disorder designated cerebellar hypoplasia is distinct from the Norman type of nonprogressive autosomal recessive cerebellar ataxia (213200).