TY - JOUR
T1 - The Apert syndrome hand
T2 - Pathologic anatomy and clinical manifestations
AU - Holten, Ian W R
AU - Smith, A. Wayne
AU - Bourne, Anthony J.
AU - David, David J.
PY - 1997/5
Y1 - 1997/5
N2 - The Apert syndrome hand demonstrates many typical clinical features including syndactyly, symbrachyphalangism, and growth disturbances. This is due to the grossly abnormal anatomy of both the skeletal and soft-tissue structures associated with a progressive disease process. This paper presents a clinical, radiologic, and histologic analysis of the Apert syndrome hand anatomy and correlates it with the clinical manifestations. It also links hand and craniofacial dysplasia to other regions of the skeleton as well as the overall disease process. From our analysis, we conclude that there is a genetic anomaly causing variable and uncoordinated differentiation of the mesenchyme at the time of embryologic separation into its various skeletal components, particularly in the distal limb bud and craniofacial skeleton. This disease process continues postnatally in endochondral bone growth center malformation and malfunction as well as ectopic cartilage ossification in soft tissues. We discuss the role of abnormal musculotendinous anatomy and altered biomechanical forces in relation to these processes.
AB - The Apert syndrome hand demonstrates many typical clinical features including syndactyly, symbrachyphalangism, and growth disturbances. This is due to the grossly abnormal anatomy of both the skeletal and soft-tissue structures associated with a progressive disease process. This paper presents a clinical, radiologic, and histologic analysis of the Apert syndrome hand anatomy and correlates it with the clinical manifestations. It also links hand and craniofacial dysplasia to other regions of the skeleton as well as the overall disease process. From our analysis, we conclude that there is a genetic anomaly causing variable and uncoordinated differentiation of the mesenchyme at the time of embryologic separation into its various skeletal components, particularly in the distal limb bud and craniofacial skeleton. This disease process continues postnatally in endochondral bone growth center malformation and malfunction as well as ectopic cartilage ossification in soft tissues. We discuss the role of abnormal musculotendinous anatomy and altered biomechanical forces in relation to these processes.
UR - http://www.scopus.com/inward/record.url?scp=0030924725&partnerID=8YFLogxK
U2 - 10.1097/00006534-199705000-00031
DO - 10.1097/00006534-199705000-00031
M3 - Article
C2 - 9145139
AN - SCOPUS:0030924725
SN - 0032-1052
VL - 99
SP - 1681
EP - 1687
JO - Plastic and Reconstructive Surgery
JF - Plastic and Reconstructive Surgery
IS - 6
ER -