Limb-Body Wall Complex and Amniotic Deformity, Adhesions, and Mutilations Sequence: A Rare Fetal Polymalformation
K Mast, A Hughes, P Baker, V Prasad. Vanderbilt University Medical Center, Nashville, TN; Nationwide Children's Hospital, Columbus, OH
Background: Limb-body wall complex (LBWC) is a rare, sporadic fetal polymalformation with an incidence of 0.33/1000 live births. It is diagnosed by the presence of two out of three defects: exencephaly; facial clefts or thoraco-/abdominoschisis and limb defects. There are two distinct phenotypes, one showing craniofacial defects and amniotic bands or adhesions and the second with urogenital anomalies, anal atresia, placental adhesion and an extraembryonic coelom. Amniotic deformity, adhesions, and mutilations sequence (ADAMS) is a disorder caused by rupture of the amnion leading to formation of multiple amniotic/chorionic bands and subsequent fetal anomalies.
Design: The following is a case report of an autopsy performed on an infant with congenital anomalies on prenatal ultrasound. A routine pediatric autopsy was performed with careful examination of the body and placenta. Genetic karyotyping was done to rule out chromosomal anomalies.
Results: The patient (46, XX) was born to a 24 year old G2P0A1 woman at 24 5/7 weeks gestational age. Delivery was induced vaginally due to congenital malformations considered incompatible with life on prenatal ultrasound. APGARS were 1 and 1 at 5 and 10 minutes respectively, and the infant survived for 1 hour 44 minutes. The autopsy examination demonstrated wide cranial sutures, edematous facies, webbed neck and scoliosis. A large abdominal defect with exstrophy of multiple organs, including ectopia cordis, was present. A thin membrane covered the defect and fused with skin, pericardium and many amniotic bands. There were multiple limb anomalies including abnormal rotation of the limbs, fusion of the extremities and digits and absence/amputation of digits. Genitalia were indistinguishable grossly. Internal examination demonstrated hypoplastic kidneys, heart, and lungs with a bilobed right lung and single lobed left lung. There was a bilateral superior and inferior vena cavae and double cervix. The placenta showed acute chorioamnionitis, chorangiosis and placental abruption.
Conclusions: This case is consistent with the diagnosis of LBWC and contains features of both known phenotypes: amniotic bands, facial abnormalities and genital anomalies. Additionally, there were the unusual findings of a double inferior and superior vena cavae and double cervix. We believe the unsupported amnion ruptured leading to multiple amniotic bands consistent with ADAMS and secondary to LBWC.
Wednesday, March 11, 2009 1:00 PM
Poster Session VI # 15, Wednesday Afternoon