Article
Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management.
Developmental medicine and child neurology - 1 Jun 1992
Holden K R, Jabs E W, Sponseller P D
Abstract excerpt
Roberts/pseudothalidomide syndrome is a rare autosomal recessive disorder, involving growth and mental retardation, midline craniofacial abnormalities and tetraphocomelia. Cytogenetic studies have confirmed reproducible chromosomal abnormalities throughout the syndrome's wide range of clinical pr...
Topics
- Abnormalities, Multiple
- Adolescent
- Chromosome Aberrations
- Chromosome Banding
- Humans
- Intelligence
- Male
- Phenotype
- Syndrome
