Clinical Ophthalmology Fig.3.9 Cryptophehalmos. (a) Complete; (b) partial in Fraser syndrome (Courtesy of D Meyer ~fig.a) symmetrical and may either resolve spontaneously with conservative treatment or may require surgery. CRANIOSYNOSTOSES Crouzon syndrome Crouzon syndrome is caused primarily by premature fusion of the coronal and sagittal sutures, |. Inheritance is AD, but 25% of cases represent a fresh mutation. The gene (FGFR2) has been isolated to chromosome 10, 2, Systemic features ‘© Short anteroposterior head distanee and wide cranium to premature fusion. ‘© Midfacial hypoplasia and curved ‘parrat-beak’ nose which gives rise to a “trog-like’ facies and mandibular athisin cried V-shaped palate # Acanthosis nigricans 3. Ocular features © Proptosis due to shallow orbits is the most conspicuous feature (Fig. 3.1 1a), ‘© Hypertclorism (wide separation of the orbits) © V pattern exotropia (Fig, 3.1 1b), © Ametropia and amblyopia © Vision-threatening complications include exposure keratopathy and optic atrophy, due to compression at the optic foramen 4. Ocular associations include anit glaueoma, colobon, m blue selera it raet, cctopia lent wwornea and optic nerve hypoplasia Fig. 3.10 Congenital upper lid eversion in a patient with collodion skin disease (Courtesy of D Meyer) Apert syndrome Apert syndrome (werovephialosyndactyly is the most severe of the eraniosynostoses and may involve all the cranial sutures. 1. Inheritance is AD. bul the majority of eases are sporadic and are associated with older paternal age 2. Systemic features © Oxycephaly with Mattened oceiput and steep forehead, © Horizontal groove abave the supraorbital ridge © Midlactal hypoplasia with a “parrol-beak’ nose andl low= setears (Fig. 3.12a © High-arched palate. cleft palate and bilid wvula, © Syndaciyly of the hands (Fig, 3.1 2b) and feet