title: [A rare form of optical, choroidal and retinal dysplasia combined with an occipital encephalocele].
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.
mesh_terms: D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000150:complications*; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000150:complications*; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D009900:Optic Nerve / Q000002:abnormalities; D012160:Retina / Q000002:abnormalities
vernacular_title: Uber eine seltene Form von Opticus-, Choroidea- und Retina-Dysplasie in Kombination mit einer occipitalen Encephalocele.