Article
Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.
Medicine - 1 Dec 2017
Al Kaissi Ali, Kuranova Mirya, Pleskach Nadezhda, Kenis Vladimir, Nassib Nabil M, Grill Franz, Ganger Rudolf, Gerit Kircher Susanne
Abstract excerpt
RATIONALE: Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease. PATIENT CONCERNS: A series of 14 family subjects (6 children with...
Topics
- Adult
- Child, Preschool
- Cockayne Syndrome
- Consanguinity
- Female
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Infant
- Intelligence
- Male
- Parents