Article
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.
Journal of medical genetics - 1 Jul 1992
Bonaventure J, Lasselin C, Mellier J, Cohen-Solal L, Maroteaux P
Abstract excerpt
We report seven children from three families who had a set of common clinical features suggestive of Larsen-like syndrome, including unusual facies, bilateral dislocations of the knees and elbows, club foot, and short stature. All of the patients originated from the island of La Réunion in the Indian Ocean. The occurrence of several affected sibs in these families and the large number of consanguineous marriages...
Topics
- Abnormalities, Multiple
- Collagen
- Face
- Female
- Humans
- Joint Instability
- Lod Score
- Male
- Mutation
- Pedigree
- Syndrome
