Article
Synpolydactyly: clinical and molecular advances.
Clinical genetics - 1 Feb 2008
Malik S, Grzeschik K-H
Abstract excerpt
Synpolydactyly (SPD) is a rare limb deformity showing a distinctive combination of syndactyly and polydactyly. Of the nine non-syndromic syndactylies, it is clinically and genetically one of the most heterogeneous malformation. SPD families may show clinical features consistent with the Temtamy and McKusick criteria as well as additional phenotypic variants, which vary from case to case. In certain instances,...
Topics
- Genotype
- Homeodomain Proteins
- Humans
- Penetrance
- Phenotype
- Syndactyly
- Transcription Factors