Resumo

LEDEZMA CUBA, Laydi Dayanna  e  QUISBERT LAZO, Lourdes. FETAL GASTROINTESTINAL AND ABDOMINAL WALL DEFECTS AND CHROMOSOMAL ANOMALY. CASE REPORT. Rev. Méd. La Paz [online]. 2023, vol.29, n.2, pp.51-57.  Epub 30-Dez-2023. ISSN 1726-8958.

Major defects of the ventral body wall (thoracoabdominal) in intrauterine life are relatively infrequent and lethal in almost all cases. They are most often associated with other anomalies, including limb anomalies, positional deformities, unusual craniofacial malformations and a variety of visceral anomalies including the heart, lungs, genitourinary system and intestine. This complex of ventral wall anomalies has been discussed under a broad and changing nomenclature that has included the amniotic banding sequence, amnion rupture sequence, OEIS complex, limb wall complex (LBWC) and Cantrell's Pentalogy. Three main theories have been suggested to explain the etiology of this complex: early rupture of the amnion (through uterine pressure and/or rupture by amniotic bands), vascular compromise (mainly hypoperfusion) and an early intrinsic defect of the developing embryo, an abnormality in the germinal disc early in development, resulting in final structural malformations. We present a case that illustrates the spectrum of ventral body wall defects and, from there, we analyze the current hypotheses of pathogenesis in addition to a genetic study, finding a chromosomal alteration. We conclude that this association of malformations originates in the embryonic disc stage, and that some of the associated anomalies observed are secondary complications of the primary alteration in embryogenesis and specific to the fetus.

Palavras-chave : Complejo OEIS; Complejo miembro-pared; trisomía 13.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )