Article
Variability in kyphomelic dysplasia.
Pediatric radiology - 1 Jul 1999
Cisarik F, Kozlowski K, Masel J, Sillence D
Abstract excerpt
Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In the first family, sibling recurrence in female sibs was noted with atypical kyphomelic dysplasias, suggesting autosomal recessive inheritance. In the second family, with a male affected with the 'typical findings' of lethal kyphomelic dysplasia, diagnosis of a skeletal dysplasia was suspected at...
Topics
- Abortion, Induced
- Bone Diseases, Developmental
- Fatal Outcome
- Female
- Fetal Death
- Genes, Recessive
- Genetic Variation
- Humans
- Infant, Newborn
- Male
- Pregnancy
- Radiography