TY - JOUR
T1 - A multidisciplinary review of triphalangeal thumb
AU - Potuijt, Jacob W.P.
AU - Galjaard, Robert Jan H.
AU - van der Spek, Peter J.
AU - van Nieuwenhoven, Christianne A.
AU - Ahituv, Nadav
AU - Oberg, Kerby C.
AU - Hovius, Steven E.R.
N1 - Publisher Copyright:
© The Author(s) 2018.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies.
AB - Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies.
KW - Triphalangeal thumb
KW - congenital limb deformities
KW - genetic enhancer elements
KW - hedgehog protein
KW - polydactyly
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U2 - 10.1177/1753193418803521
DO - 10.1177/1753193418803521
M3 - Review article
C2 - 30318985
SN - 1753-1934
VL - 44
SP - 59
EP - 68
JO - The Journal of hand surgery, European volume
JF - The Journal of hand surgery, European volume
IS - 1
ER -