Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.

摘要

Congenital anomalies can be classified as malformations, disruptions, or deformations [Spranger et al., 1982]. Here, malformation refers to a primary defect in the cells or tissue forming an organ or organ system whereas disruption refers to the breakdown of a normally formed tissue or structure. Deformation refers to intrinsic or extrinsic biomechanical forces acting on the fetus to cause a structural abnormality. When a multiple malformation syndrome is caused by a gene mutation or chromosomal abnormality, most, if not all, defects arise as a result of a malformative process. A relatively frequent exception to this premise may be intrinsic deformation as a result of central nervous system malformation(s). Nevertheless, disruptions, which usually are consequences of vascular defects [Hoyme et al., 1982], very rarely accompany multiple malformation syndromes arising from gene mutations or chromosomal abnormalities. In the present study, we report a patient with distal 11q deletion syndrome (also known as Jacobsen syndrome) [Grossfeld et al., 2004], who had a transverse defect of the lower limb that was classified as a disruption. The present patient represents the second reported case with a distal 11q deletion syndrome and a transverse limb defect [von Bubnoff et al., 2004] and thus illustrates the important clinical notion that malformation and disruption can occur simultaneously in a patient with a multiple malformation syndrome of genetic origin.