ABSTRACT
Amniotic band sequence (ABS) includes a wide spectrum of abnormalities resulting from entrapment of various fetal parts from a disrupted amnion, ranging from a mere constriction ring affecting a finger to a fatal form called limb body wall complex (LBWC). Reported cases of ABS with LBWC are very few. The spectrum of anomalies depends on which part gets entrapped and at what point of gestation. Hence, the clinical presentation can be extremely variable. Early detection of such cases using sonology is really challenging due to the small size of the fibrotic bands. Here, we present a case of amniotic band syndrome with LBWC in a fetus at 24 weeks of gestation, which was referred for an autopsy. The fetus also showed scoliosis, gastroschisis, lumbosacral meningocele, congenital talipes equinovarus, and cleft palate, thus having features of placenta cranial and placenta abdominal phenotype which is very rare.
ABSTRACT
La secuencia de bridas amnióticas (SBA) es un grupo de malformaciones de tipo disruptivo que afecta principalmente las extremidades; clínicamente, se observan anillos de constricción y linfedema en dedos, brazos y piernas; pseudosindactilias y acrosindactilias; además, existe amputación congénita de las extremidades por tumefacción distal; en algunos pacientes se han comunicado, con menor frecuencia, alteraciones craneofaciales y del tronco. La etiología es aún desconocida y la mayoría de los casos son aislados. En este informe presentamos el caso de un paciente masculino, de 45 días de nacido, con diagnóstico de SBA y atresia bilateral de coanas como hallazgo adjunto; se revisan las posibles causas del SBA y las alteraciones asociadas.
Amniotic band sequence (ABS) is a group malformation that mainly affects limbs; clinically, constriction rings and lymphedema of the fngers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling. Less frequently, craniofacial and trunk involvement are reported in some patients. Etiology is still unknow and most cases are isolated. In this report we present the case of a 45-day-old male with diagnosis of SBA and bilateral choanal atresia as attached fnding, and review possible causes of SBA and associated alterations.