Severe amniotic band syndrome with limb body wall complex. Ultrasonographic-clinicopathologic correlations

Abstract

A 25 year-old primigravida first presented with preterm rupture of membranes at 28 weeks gestation. She had prenatal care in Antigua. Our sonogram showed a complete encephalocele and dorsally malpositioned eyes: the rest of the face was not visualized. A beating two chambered heart was seen at the dorsal aspect of the twisted spine. The limbs could not be followed past the femur, which measured 26 weeks. Dilated bowel loops occupied the area around the fetus and there was no amniotic fluid. Augmentation of labor was initiated because of ruptured membranes and poor fetal prognosis. A 360gm female stillborn was attached to the placenta by a 6 cm umbilical cord. A dense amniotic band from the palate, amputated the nose, bisected the face and skull and adhered to an umbilical cord adjacent to a large abdominal wall defect. The brain was evacuated tlirough a wide sagittal bone defect. Heterotopic liver with separate dorsal and ventral pancreas and apple-peel atresia of the large bowel was also identified. Mcconium-filled small bowel loops were remarkably dilated. The head and trunk tethered by the amniotic band resulted in a predictable pattern of torque deformation sequence, which may account for many of the observed anomalies of the limb body wall complex. This includes: atresia, right heart; agenesis, right lung; constriction, umbilical cord; retroflcxion and right lateral rotation, axial skeleton, with secondary contortion of the appendicular skeleton. The shortened right arm was frozen in a right angle contracture with amputated fingers. Talipes equinovarus of the left foot and cleft right foot with absent digits was seen. Radiographic examination of the body showed severe angulating scoliosis, hyperextension of the neck and a short, square pelvis. Pathologic examination was critical in defining these anomalies and permitted reinterpretation of the ultrasonographic findings. This case unequivocally illustrates the association of amniotic band syndrome and limb body wall complex.Reference: Gunther, WM. Anderson, VM, Drut, RM Torque deformation sequence associated with short umbilical cord and abdominal wall defect. Blaslogeneus: normal and abnormal, ed. John M. Opitz. Birth Defects Original Article Series, 1993; 29: pp317–333.