[Morning glory disc anomaly und frontonasal dysplasia].
Morning glory disc anomaly (MGDA) is a rare congenital malformation of the optic disc, which can be associated with midline craniofacial abnormalities, such as basal encephalocele. A female neonate presented with MGDA in the right eye, pendular nystagmus, hypertelorism, a flattened nasal root and cleft lip and palate. MRI revealed a basal encephalocele, agenesis of the corpus callosum and ventricular enlargement. MGDA combined with midline facial clefting should always lead to the suspicion of a basal encephalocele.
Papageorgiou
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Abt. für Pathophysiologie des Sehens und Neuroophthalmologie, Universitätsaugenklinik Tübingen, Schleichstrasse 12-16, 72076, Tübingen, Deutschland. Eleni.Papageorgiou@med.uni-tuebingen.de
Schiefer
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Warmuth-Metz
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Weckerle
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D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities*; D009898:Optic Disk / Q000002:abnormalities*