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  • Title: [A rare form of optical, choroidal and retinal dysplasia combined with an occipital encephalocele].
    Author: Mayer U, Klinger M, Rott HD.
    Journal: Graefes Arch Clin Exp Ophthalmol; 1982; 219(2):72-5. PubMed ID: 6814985.
    Abstract:
    Report on the case of a female infant born with an occipital encephalocele and colobomas of the optic disc, chorioid, and retina. These clinical signs together with respiratory disturbances suggest a Joubert syndrome and a Pfeiffer syndrome. The differential diagnosis of these syndromes is discussed. An analysis of the clinical data indicates a genetic risk of 25% for further siblings.
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