Va. Fabian et al., Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes, ACT NEUROP, 102(4), 2001, pp. 393-397
We describe a family, consisting of two brothers and a maternal uncle who d
ied of an apparently identical condition, within a few days of birth, sugge
stive of an X-linked mode of inheritance. The propositus (the older sibling
) was investigated in detail and showed the following clinical features: mi
crocephaly, facial dysmorphism, malformations of hands and feet, and crypto
rchidism. Examination of the brain revealed arhinencephaly, a primitive gyr
al pattern, arrested cortical maturation, absence of corticofugal tracts an
d corpus callosum, agenesis of the optic pathway with preserved eyes and oc
ulomotor system, absent auditory pathway, agenesis of the pars compacta of
the substantia nigra and severe hypoplasia of the cerebellum and its connec
tions. This family belongs to the group of X-linked microcephalies and has
some features in common with the Juberg-Marsidi syndrome. The fact that the
CNS abnormalities were incompatible with life and the facial dysmorphic fe
atures were quite different makes it unlikely that the affected individuals
in this family had Juberg-Marsidi syndrome. However, this does not exclude
the possibility that more, restricted anterior induction defects may occur
in some X-linked microcephalies such as Juberg-Marsidi syndrome resulting
in prolonged survival.