A bipolar syndrome involving eyes and extremities.
A single case of a girl from
consanguineous parents has been reported. Probably autosomal recessive
Disease involves the eyes with cataract,
microphthalmos, retinal dysplasia, corneal clouding and visual loss and the
limbs with irregular length of fingers, brachydactyly, terminal hypoplasia
of fingers, clinodactyly of fifth finger, and absent, dysplastic, or small
Anesthesia in this condition has not
been described. The features of the disease do not suggest that specific
anesthesia precautions are required.
Chemke J, Oliver M, Mallek D, et al: Multiple ophthalmic anomalies and
digital hypoplasia. J Genet Hum