Limb Body Wall Complex - case presentation and literature review

D Socolov, C Terinte, V Gorduza, R Socolov, J M Puiu
2009 Romanian Journal of Legal Medicine  
Limb Body Wall Complex (LBWC) is a combination of development abnormalities involving the neural tube, body wall and the limbs. There are few cases in literature, and our case is only the 2 nd presented from Romania. The patient was a 31 year-old women G1P0A0 with a 33 week pregnancy which had no prenatal care. The ultrasound scan described several abnormalities, including: large abdominal wall defect, with difficult to identify pelvic organs and ambiguous genitalia; enlarged stomach with
more » ... ion of intestinal atresia; scoliosis and spida bifida occulta with bilateral ventriculomegalia; one inferior limb absent; short umbilical cord with single artery. After therapeutic termination of pregnancy, the abnormalities were confirmed and polycystic liver and kidneys were also mentioned. Also bilateral cardiac ventriculomegalia and left superior pulmonary lobe hemorrhage were identified, and imperforated anus and pancreas agenesia. No abnormalities were found at karyotype examination (46, XY). The case presented is a placento-caudal phenotype of a LBWC syndrome, which had as a special element the polycystic kidney and hepatic disease.
doi:10.4323/rjlm.2009.133 fatcat:lqd7soee5vgjrl6qctuv35dxa4