Clefting Syndrome With Typical and Atypical Irido-Retinochoroidal Colobomatous Defects

Tandon, Radhika; Burke, John P.; Strachan, I. M.

doi:10.3928/0191-3913-19940301-15

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Anophthalmia-microphthalmia-oblique clefting syndrome: Confirmation of the Fryns anophthalmia syndrome

et al. 1997

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We describe a patient with bilateral extreme microphthalmia with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature craniosynostosis. The cause is unknown, but the phenotype resembles the Fryns anophthalmia-plus syndrome, which may be a recessive trait, although intrauterine environmental factors cannot be excluded.

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