TY - JOUR
T1 - Insights into the pathogenesis of macrodactyly
AU - Ezaki, Marybeth
N1 - Publisher Copyright:
© The Author(s) 2018.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Mirror-image symmetry in limbs is normal in the vertebrate phenotype. Genetic and epigenetic factors regulate the differentiation, patterning, and development of the embryo and foetus. Growth after birth is influenced by hormonal and environmental factors such as nutrition. Limb size asymmetry in a child should trigger a search for associated pathology that may include neoplastic conditions, sequelae of injury, vascular, and neurogenic factors. Macrodactyly, part of the PIK3CA Related Overgrowth Spectrum, offers the physician a clinical challenge, while at the same time an opportunity to study morphology, histology, and more recently the molecular mechanisms from which the conditions arise. Collaboration between clinicians and basic scientists offers an exceptional opportunity for coordinated study and the potential for improved patient outcomes.
AB - Mirror-image symmetry in limbs is normal in the vertebrate phenotype. Genetic and epigenetic factors regulate the differentiation, patterning, and development of the embryo and foetus. Growth after birth is influenced by hormonal and environmental factors such as nutrition. Limb size asymmetry in a child should trigger a search for associated pathology that may include neoplastic conditions, sequelae of injury, vascular, and neurogenic factors. Macrodactyly, part of the PIK3CA Related Overgrowth Spectrum, offers the physician a clinical challenge, while at the same time an opportunity to study morphology, histology, and more recently the molecular mechanisms from which the conditions arise. Collaboration between clinicians and basic scientists offers an exceptional opportunity for coordinated study and the potential for improved patient outcomes.
KW - Macrodactyly
KW - PIK3CA
KW - hand
KW - overgrowth
UR - http://www.scopus.com/inward/record.url?scp=85053219491&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85053219491&partnerID=8YFLogxK
U2 - 10.1177/1753193418790928
DO - 10.1177/1753193418790928
M3 - Article
C2 - 30086673
AN - SCOPUS:85053219491
SN - 1753-1934
VL - 44
SP - 25
EP - 31
JO - Journal of Hand Surgery: European Volume
JF - Journal of Hand Surgery: European Volume
IS - 1
ER -