The Joubert Syndrome associated with bilateral chorioretinal coloboma

Author:

Lindhout D.,Barth P. G.,Valk J.,Boen-Tan T. N.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Aicardi J, Chevrie JJ, Rousselie F (1969) Le syndrome spasmes en flexion agénésie calleuse, anomalies choriorétiniennes. Arch Franç Péd 26:1103–1120

2. Andermann E, Andermann F, Joubert M, Melançon D, Karpati G, Carpenter S (1975) Three familial midline malformation syndromes of the central nervous system: Agenesis of the corpus callosum and anterior horn-cell disease; agenesis of the cerebellar vermis; and atrophy of the cereballar vermis. In: Birth Defects: Orig Art Ser 11:269–293

3. Angelman H (1961) Syndrome of coloboma with multiple congenital abnormalities in infancy. Br Med J II:1212–1214

4. Boltshauser E, Isler W (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation, and ataxia, associated with dysplasia of the cerebellar vermis. Neuropädiatrie 8:57–66

5. Calogero JA (1977) Vermian agenesis and unsegmented midbrain tectum: case-report. J Neurosurg 47:605–608

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