Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events.
Preaxial polydactyly (PPD) is a common congenital abnormality and its classification varies among geneticists and hand surgeons. For example, the triphalangeal thumb, preaxial polysyndactyly, and the mirror hand deformity are considered as forms of PPD only in the genetics literature. Preaxial polydactyly is an error in the anteroposterior axis of the development of the upper limb. In this paper, the development of this axis is detailed and all molecular events that are known to lead to PPD are reviewed. Finally, based on the review, PPD is viewed as a spectrum of severity of embryonic events.
Division of Plastic and Hand Surgery, King Saud University, Riyadh, Saudi Arabia. moqattan@hotmail.com
Mohammad M
MM
Al-Qattan
D000818:Animals; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics; D051522:Fibroblast Growth Factor 6 / Q000235:genetics; D005385:Fingers / Q000002:abnormalities* / Q000196:embryology; D005542:Forearm / Q000196:embryology; D018507:Gene Expression Regulation, Developmental / Q000235:genetics / Q000502:physiology*; D005801:Genes, Homeobox / Q000235:genetics / Q000502:physiology*; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D017689:Polydactyly / Q000196:embryology* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D051879:Twist-Related Protein 1 / Q000235:genetics; D038062:Upper Extremity Deformities, Congenital / Q000196:embryology; D000074290:Zinc Finger Protein Gli3
D051792:Basic Helix-Loop-Helix Proteins; D051522:Fibroblast Growth Factor 6; D053823:Hedgehog Proteins; D051741:Kruppel-Like Transcription Factors; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D051879:Twist-Related Protein 1; D000074290:Zinc Finger Protein Gli3; C065683:GLI3 protein, human; C465571:Gli3 protein, mouse; C498765:HAND2 protein, human; C104146:SALL1 protein, human; C509239:SHH protein, human; C103173:TWIST1 protein, human