Miller-Dieker syndrome with ring chromosome 17. Issue 6 (June 1991)

• Record Type: Journal Article
• Authors: Sharief, N; Craze, J; Summers, D; Butler, L; Wood, C B
• Is Part Of: Archives of disease in childhood. Volume 66:Issue 6(1991)
• Page Start: 710
• Page End: 712
• Publication Date: 1991-06
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.66.6.710
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.