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Klin Monbl Augenheilkd 2015; 232(3): 281-282
DOI: 10.1055/s-0034-1396178
DOI: 10.1055/s-0034-1396178
Der interessante Fall
Horizontale Blickparese mit progredienter Skoliose
Horizontal Gaze Palsy with Progressive ScoliosisFurther Information
Publication History
Publication Date:
24 March 2015 (online)
Patient
Ein 7 Monate altes Mädchen wurde mit einer seit der 7. Lebenswoche bestehenden Kopfzwangshaltung sowie Verdacht auf beidseitige Abduzensparese zugewiesen.
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Literatur
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- 2 Rossi A, Catala M, Biancheri R et al. MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. AJNR Am J Neuroradiol 2004; 25: 1046-1048
- 3 Assaf AA. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs). Eye (Lond) 2011; 25: 1251-1261
- 4 Traboulsi EI. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Trans Am Ophthalmol Soc 2004; 102: 373-389
- 5 Jen JC, Chan WM, Bosley TM et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004; 304: 1509-1513
- 6 Engle EC. Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol 2010; 2: a001784
- 7 Nugent AA, Kolpak AL, Engle EC. Human disorders of axon guidance. Curr Opin Neurobiol 2012; 22: 837-843
- 8 Chan WM, Traboulsi EI, Arthur B et al. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet 2006; 43: e11