| Common associated findings in this syndrome include rib defects, hypoplasia of the upper extremities, and syndactyly. |
| It is usually caused by congenital hypoplasia of the abducens nerve or nucleus, but may rarely represent an acquired syndrome. |
| Patients typically have large calvaria, midface hypoplasia, high-arched eyebrows and hypertelorism. |
| Ophthalmologic examination with the slit lamp demonstrates the iris pigment defect, as well as retinal hypopigmentation and foveal hypoplasia. |
| The clinical features include misshapen skull caused by coronal suture synostosis, wide-set eyes, midface hypoplasia, choanal stenosis, and shallow orbits. |
| At the microscopic level erythroid hyperplasia and myeloid hypoplasia were observed in femur and sternum bone marrow. |
