[Limb-body wall malformation complex: an unusual developmental abnormality of the abdominal wall. Case report, clinicopathological and etiological implications].
Anterior abdominal wall defects are not too rare between developmental abnormalities. A case of abdominal wall defect associated with complex malformations diagnosed prenatally is reported in the paper. In the present case of limb-body wall complex a right sided abdominoschisis was associated with rotational abnormality of the lower limbs, clubfoot, scoliosis, meningomyelocele, lack of developed pelvic organs, consecutive dilatation of the upper urinary tract, anal atresia, lack of external genitalia, lack of diaphragm and hypoplastic lungs. Review of the pertinent literature has revealed over 100 cases that clearly indicate the possible phenotypic variation of the limb-body wall complex. These data add further evidence to support the existence of two different phenotypes and possibly pathogenesis under the heading of limb-body wall complex. The three principal theories on the possible aetiology of the complex are also discussed. Because the limb-body wall complex is incompatible with life, it is important to diagnose the lesions prenatally, and to differentiate them from other anterior abdominal wall defects. Serum alpha-fetoprotein measurement, and ultrasonographic examination are the key to prenatal diagnosis.
Cserni
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Bács-Kiskun Megyei Onkományzat Kórháza, Kecskemét, Patológiai Osztály.
Tankó
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A
D000009:Abdominal Muscles / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D000028:Abortion, Induced; D000328:Adult; D003025:Clubfoot / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008588:Meningocele / Q000000981:diagnostic imaging; D011247:Pregnancy; D016135:Spinal Dysraphism / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal