Journal of Pathology and Translational Medicine

Original Article

Limb-Body Wall Malformation Complex with Absence of External Genitalia.: Jeong Hee Lee, Hyun Ju Kim, Gyung Hyuck Ko, Dong Jin Lee, Jong Hwa Kim; Korean J Pathol. 1995;29(2):248-250.

Abstract PDF: 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.

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