CLINICAL AND EPIDEMIOLOGIC CHARACTERISTICS OF INFANTS WITH BODY-WALL COMPLEX WITH AND WITHOUT LIMB DEFICIENCY

The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants wit h LBWC, and some cases do not have limb deficiencies. Van Alien et al, [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of body wall defects with evisceration of thoracic and/or ab dominal organs, limb deficiency, and myelocystocele) should be based o n the presence of two of three of the following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects, This approach implies that an infant with encephaloc ele with facial clefts and limb defects may be considered as having LB WC, which I do not think is correct. I present the results of a clinic al and epidemiological analysis aimed at identifying if, from an epide miological perspective, it is possible to identify an entity which is characterized by the presence of abdominal mall defects along with oth er malformations including or not limb deficiencies, The result of thi s analysis allows us to consider that this entity should be characteri zed by the presence of abdominal wall defects with a variable spectrum of anomalies (with or without limb deficiencies) and, consequently, b e called body mall complex (BWC), BWC includes cases regardless of the ir clinical pattern and the possible etiology or pathogenetic mechanis m, Thus, the BWC entity does not include amniotic band sequence withou t body wall defects, but does include amniotic band sequence with body wall defects. (C) 1997 Wiley-Liss, Inc.