Article
A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.
American journal of medical genetics. Part A - 1 Apr 2004
Malik Sajid, Arshad Muhammad, Amin-Ud-Din Muhammad, Oeffner Frank, Dempfle Astrid, Haque Sayedul, Koch Manuela C, Ahmad Wasim, Grzeschik Karl-Heinz
Abstract excerpt
Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic...
Topics
- Adult
- Biomarkers
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 6
- Consanguinity
- Female
- Foot Deformities, Congenital
- Genes, Recessive
- Genetic Linkage
- Hand Deformities, Congenital
- Humans
- Male
- Pakistan