Article
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene.
Clinical genetics - 1 Jul 1998
Fryns J P, Willekens D, Van Schoubroeck D, Moerman P
Abstract excerpt
In this report we present evidence that Marden-Walker syndrome and isolated distal arthrogryposis may be variable manifestations of the same entity. We describe the clinical and pathological findings in two affected siblings, the first two children of normal, non-consanguineous parents. The first child, a female, presented a typical Marden-Walker syndrome with Dandy Walker type CNS malformation, corpus callosum...
Topics
- Abnormalities, Multiple
- Arthrogryposis
- Face
- Female
- Fetal Death
- Fetus
- Growth Disorders
- Humans
- Infant, Newborn
- Male
- Mutation
- Psychomotor Disorders
- Syndrome