UNLABELLED: We report six patients with aplasia or hypoplasia of the cerebellar vermis with early symptoms consisting of psychomotor retardation, nystagmus and severely reduced visual acuity due to congenital amaurosis. At age 5.6-12.1 years, five of these patients developed symptoms of chronic renal failure due to renal maldevelopment. CONCLUSION: Children presenting with vermis aplasia should be monitored for associated disorders, especially renal disease.
UNLABELLED: We report six patients with aplasia or hypoplasia of the cerebellar vermis with early symptoms consisting of psychomotor retardation, nystagmus and severely reduced visual acuity due to congenital amaurosis. At age 5.6-12.1 years, five of these patients developed symptoms of chronic renal failure due to renal maldevelopment. CONCLUSION:Children presenting with vermis aplasia should be monitored for associated disorders, especially renal disease.
Authors: F Hildebrandt; I Singh-Sawhney; B Schnieders; L Centofante; H Omran; A Pohlmann; C Schmaltz; H Wedekind; C Schubotz; C Antignac Journal: Am J Hum Genet Date: 1993-12 Impact factor: 11.025
Authors: C Antignac; C H Arduy; J S Beckmann; F Benessy; F Gros; M Medhioub; F Hildebrandt; J L Dufier; C Kleinknecht; M Broyer Journal: Nat Genet Date: 1993-04 Impact factor: 38.330