Article
A clinical and genetic study of campomelic dysplasia.
Journal of medical genetics - 1 Jun 1995
Mansour S, Hall C M, Pembrey M E, Young I D
Abstract excerpt
Campomelic dysplasia (CMD) is a rare skeletal disorder that is usually lethal. It is characterised by bowing of the lower limbs, severe respiratory distress, and many of the chromosomal (XY) males show sex reversal. Because of a number of reports of familial campomelic dysplasia it is considered...
Topics
- Adolescent
- Adult
- Bone and Bones
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 17
- Disorders of Sex Development
- Female
- Genes, Dominant
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Maternal Age
- Osteochondrodysplasias
- Paternal Age
- Phenotype
- Pregnancy