A bipolar syndrome involving the eyes and the extremities.
A single case of a girl from consanguineous parents has been reported.
Most likely autosomal recessive transmission.
The disease affects the eyes with cataract, microphthalmos, retinal dysplasia, corneal clouding, and vision loss. The limbs show irregular length of the fingers with brachydactyly and terminal hypoplasia, and clinodactyly of the fifth finger. The fingernails are either absent or small and dysplastic.
Precautions before anesthesia
Routine preoperative assessment is considered adequate.
Anesthesia in this condition has not been described. The features of the disease do not suggest that specific anesthesia precautions are required.
None specific to this syndrome.
Z: Multiple ophthalmic anomalies and digital hypoplasia. J Genet Hum