Lent microphthalmia syndrome was first described by Lent et al in 1955
. The cardinal features of the syndrome are microphthalmia or anophtha
lmos, narrow shoulders, other skeletal anomalies, and dental and uroge
nital malformations. Here we present a case of Lent microphthalmia syn
drome who shows the typical characteristics and, additionally, dysgene
sis of the corpus callosum associated with dilatation of the lateral v
entricles. The patient, a 13 year old male, was referred to our hospit
al by a dental hospital for genetic counselling. On physical examinati
on, height, weight, and head circumference were below the 3rd centile
and he had brachymicrocephaly, a preauricular tag, microphthalmia, mis
sing teeth, narrow shoulders, long, proximally placed thumbs, hypospad
ias, cryptorchidism, and a normal IQ. Ophthalmological examination sho
wed microcornea, sclerocornea, absence of the pupil, no vision in the
left eye and decreased vision and a small pupil in the right eye in ad
dition to his bilateral microphthalmia. Cranial MRI showed dilatation
of the lateral ventricles and dysgenesis of the corpus callosum.