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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k'romm und P o r s t e r , Die Spaltung USU'.

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