Sirenoid monopodia with defects of right abdominal wall and lower limb associated with chromosome abnormality.
We have experienced a case of sirenoid monopodia with extreme deformity, which was studied pathoanatomically and genetically. The pathoanatomical studies revealed complicated deformities such as absence of the right abdominal wall, sacrum, right side of the os coxae and lower extremity, etc., and a chromosome study revealed 46XX, t (1 p-, Xq+), -8, +M. Various authors have discussed the genetic factors of anomaly of vascular development and concluded that all cases except for a few familial types would appear to be sporadic. In the present paper we report on an extreme type of sirenoid monopodia with right lower limb defect associated with chromosome abnormality. It is supposed that impoverished blood supply to the right lower portion of the body may have been the cause of this case, but the involvement of genetic factors is still unknown.
D000009:Abdominal Muscles / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D005260:Female; D005532:Foot Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities*