Article
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?
Journal of medical genetics - 1 Oct 1998
Percin E F, Percin S, Egilmez H, Sezgin I, Ozbas F, Akarsu A N
Abstract excerpt
Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. Th...
Topics
- Child, Preschool
- Chromosomes, Human, Pair 2
- Female
- Fingers
- Foot Deformities, Congenital
- Genetic Linkage
- Hand Deformities, Congenital
- Homeodomain Proteins
- Homozygote
- Humans
- Lod Score
- Male
- Pedigree
- Phenotype
- Polymorphism, Single-Stranded Conformational
- Radiography
- Syndactyly
- Synostosis