Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.
Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. Neuropediatrics 1992;23:316-320. 184.
Eye abnormalities include microphthalmos, hypoplastic optic nerve, ocular colobomas, retinal detachment, cataracts, glaucoma, iris malformation, and corneal opacities,