Article
Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières.
American journal of medical genetics - 17 Feb 1998
Kumar D, Rittey C, Cameron A H, Variend S
Abstract excerpt
Five boys and two girls from a large consanguineous British Muslim family of Pakistani origin are described. All presented from infancy to early childhood with progressive moderate to severe developmental delay, postnatal microcephaly, spastic quadriplegia, refractory seizures, and visual handica...
Topics
- Basal Ganglia Diseases
- Calcinosis
- Child
- Child, Preschool
- Disease Progression
- Female
- Humans
- Infant
- Male
- Nerve Degeneration
- Pedigree
- Phenotype
- Syndrome