Luc De Catte, MD, Tony Waterschoot, MS, Carine Mares, MS, Anita Goossens, MD*, Walter Foulon, MD
Address correpondence to: Luc De Catte, MD, Dept of Obstetrics and Gynecology, and Pathology*, Academic Hospital, Free University of Brussels, Laar- beeklaan 101, 1090 Brussels, Belgium. Ph: 322-477-6531; Fax: 322-477-5800
Synonyms: Limb-body wall complex, body stalk anomaly, aplasia of the cord, cyllosomas.
Definition: Set of disruptive abnormalities, including lateral body-wall defect involving thorax, abdomen or both, skeletal abnormalities of the spine, lower or upper limb reduction anomalies and a failure of umbilical cord development1.
Etiology: Unknown. Some authors believe in the impact of a yet unrecognized teratogen3,4. The abuse of cocaine has recently been associated with the development of the limb-body wall complex 5.
Pathogenesis: Body stalk anomaly is a part of the Early amnion rupture sequence (as result of compression or vascular disruption) or results from a defect in the germ disc, leading to an abnormal body folding and faulty fetal morphogenesis.
Associated anomalies: see Table 1.
Differential diagnosis: Extra-amniotic pregnancy, amniotic band syndrome, Pentalogy of Cantrell, omphalocele.
Recurrence risk: Sporadic disorders with no sex predisposition.
Management: Termination of pregnancy.
MESH Abdominal-Wall-embryology, abnormalities; Ectoderm-physiology; Abnormalities, Multiple-etiology BDE 2957 ICD9 759.9 CDC 759.900
Body folding, as a result of the rapid growth of the embryo and particularly of the nervous system, occurs mainly in the 4th-5th embryologic week. The head-, tail-, and the two lateral folds separate the intra- from the extraembryonic coelom, creating the formation of a primitive gut and the anterior part of the diaphragm. The body stalk, now positioned at the ventral part of the embryo, elongates to form the umbilical cord and will be covered by the amnion. The amnio-embryonic transition is reduced to a narrow region at the umbilical site on the ventral body surface. Errors in body folding occur sporadically, leading to severe, often lethal malformations of which the complexity largely depends on the involvement of each of the body folds.
This case report illustrates the sonographic and pathologic findings in a large body stalk malformation and gives a short review of the literature.
An ultrasound scan was performed in a G1P0 woman at 19 weeks of gestation. Fetal biometry was within normal ranges. A complex fetoplacental malformation pattern was observed. A scalloping of the frontal bones (lemon sign) was observed, with a thickening of the nuchal fold (7mm). The fetal intracranial structures demonstrated no other anomalies. The small thorax and the absence of the diaphragm resulted in a thoracoabdominal shifting and marked levorotation of the fetal heart (fig. 1).