Apert syndrome

General: Inherited; most often rece 424b14e ssive, sometimes dominant; an extreme form of Apert syndrome has been described as Carpenter syndrome, with the latter being familial and transmitted as an autosomal recessive.

Ocular: Shallow orbit; exophthalmos; hypertelorism; ptosis; strabismus; nystagmus; ophthalmoplegia; hyperopia; exposure keratitis; cataracts; ectopia lentis; medullated nerve fibers; retinal detachment; papilledema with subsequent optic atrophy; keratoconus.

Clinical: Oxycephaly ('tower skull'); syndactyly (symmetrically); synostoses and synarthroses of shoulder and elbows frequent; agenesis of spinal bones and limbs; headaches; hypertelorism; hypoplastic maxilla; acrocephaly; abnormality of sutures.

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Margolis S. Structural alterations of extraocular muscle associated with Apert's syndrome. Br J Ophthalmol 1977; 61:683-689.

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