Article
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.
American journal of medical genetics - 1 Jan 2000
Bialer M G, Lawrence L, Stevenson R E, Silverberg G, Williams M K, Arena J F, Lubs H A, Schwartz C E
Abstract excerpt
We restudied a family with X-linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop....
Topics
- Adult
- Aged
- Face
- Genetic Linkage
- Humans
- Intellectual Disability
- Male
- Middle Aged
- Muscles
- Paraplegia
- Pedigree
- Phenotype