Korean J Pathol.
1995 Apr;29(2):248-250.
Limb-Body Wall Malformation Complex with Absence of External Genitalia
- Affiliations
-
- 1Department of pathology, Gyeongsang National University, College of Medicine, Jinju, Korea.
- 2Department of Obstetric and Gynecology, Gyeongsang National University, College of Medicine, Jinju, Korea.
Abstract
- The limb-body wall malformation complex is a sporadic congenital anomaly characterized by protean manifestations. The diagnosis is based upon the presence of at least two out of craniofacial anomaly, body wall defect, and limb abnormalities. We present a case of limb-body wall malformation complex. This case shows abdominal and pelvic wall defects with eventration of the viscera. It also shows an absence of right kidney, polycystic left kidney, absence of external genitalia and anus, and lower extremity abnormalities. The right lower extremity is absent and the deformed left leg shows malformed foot-like structure attached to the shin in addition to a normally positioned left foot. Our patient is the first case of complete absence of the external genitalia associated with limb-body wall malformation complex in Korean publications and the seventh in English publications.
