Congenital absence of the superior mesenteric artery

Duodenal atresia with a deletion of midgut associated with left lung, kidney, and upper limb absences and right upper limb malformation

“…Unfortunately, 3 patients died without aggressive therapies because of the life-threatening disease 5 or after receiving various therapies. 4 In this case, the absence of 3 major ipsilateral organs, namely the left lung, kidney, and upper limb absences were recognized, excluding the duodenal atresia with midgut deletion. Pulmonary agenesis is an uncommon anomaly in which one or both lungs are completely absent or show severe hypoplasia.…”

“…Only 4 cases of this disease have been reported in the literature until now, including our case. [3][4][5] The characteristics of all 4 cases are listed in Table 1. Three in 4 cases were boys and premature babies (mean birth weight, 2,209 g).…”

“…In these anomalies, the cause is considered to be sporadic or multifactorial entities, mendelian disorders, chromosomal anomalies, exposure to teratogens, or fetal vascular disruption. [3][4][5][6][8][9][10][11] Considering the family of this baby, there was no evidence of any mendelian disorders. As previous mentioned, the mother was neither a drug addict nor an alcoholic.…”

“…Only 3 such cases have been reported previously. [3][4][5] This disease is suspected mainly to result from fetal midgut volvulus, fetal vascular abnormal development or disruption, and teratogenic insult. [3][4][5] Pulmonary agenesis, including complete pulmonary absence or severe pulmonary hypoplasia, is an uncommon disease.…”

“…[3][4][5] This disease is suspected mainly to result from fetal midgut volvulus, fetal vascular abnormal development or disruption, and teratogenic insult. [3][4][5] Pulmonary agenesis, including complete pulmonary absence or severe pulmonary hypoplasia, is an uncommon disease. 6 The pathogenesis also remains speculative, although fetal vascular disruption during development and teratogenic insult have been considered previously.…”