Congenital limb deficiency requiring transfemoral amputation

Abstract

A healthy female infant was born from a twin pregnancy with an isolated congenital lower extremity malformation. Aside from prenatally diagnosed polyhydramnios, the infant had normal prenatal and postnatal diagnostic workup. She underwent transfemoral amputation and healed uneventfully. Congenital limb anomalies may be the result of an unidentified amniotic band, thromboembolic event or twin-twin transfusion syndrome, though in this case, prenatal screening did not indicate any evidence of a limb anomaly and postnatal workup was negative.

Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene

“…It occurs mostly due to intrauterine compression by amniotic bands, oligohydramnios, or umbilical cord compression. It may also occur due to embolization from infarcted placental parts, hyperviscosity due to polycythemia, or thrombosis due to inherited thrombophilia [2][3][4][5][6][7][8]. Usually, affected newborn presents with pallor, cyanosis, swelling, coldness, macerations, absent peripheral pulses, prolonged capillary refill time (CTR), and possibly necrosis of the involved limb during the first hours of life.…”

“…Intrauterine limb ischemia is considered very rare with a limited number of cases being reported in the literature [1][2][3][4]. Overall congenital upper limb circulatory de ciency can a ect approximately 7 out of every 10000 births [5]. It must be discovered and dealt with promptly in order to preserve limb function and restore perfusion as it may lead to limb amputation in many cases [4,6].…”

“…Intrauterine limb ischemia must be di erentiated from neonatal limb ischemia, which occurs after birth mostly due to catheterization, sepsis, or coagulopathy [1][2][3][4]. On the other hand, intrauterine upper limb ischemia may result due to intrauterine compression by amniotic bands, oligohydramnios, mal-presentation of the fetus with limb prolapse and umbilical cord entanglement, or as a result of thromboembolic events due to embolization from infarcted placental parts or thrombosis due to coagulopathies [2][3][4][5][6][7][8].…”