Article
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type.
American journal of medical genetics - 1 Oct 1993
Langer L O, Schaefer G B, Wadsworth D T
Abstract excerpt
We present a 7 1/2-year-old girl with achondroplasia and pseudoachondroplasia. Her mother has achondroplasia and her father has pseudoachondroplasia. Radiographic manifestations of these two conditions from infancy to age 6 years are outlined. The findings in this patient are compared with those...
Topics
- Achondroplasia
- Adult
- Age Factors
- Child
- Epiphyses
- Female
- Heterozygote
- Humans
- Male
- Osteochondrodysplasias
- Phenotype
- Radiography