High maternal fever during gestation and severe congenital limb disruptions

Abstract

Hyperthermia is defined as a temperature of at least 1.5 degrees C over the normal core body temperature. It is a proven teratogen in animals and in humans. The type of defects induced by hyperthermia in experimental animals are: anencephaly/exencephaly, encephalocele, microphthalmia, arthrogryposis, abdominal wall defects, limb deficiencies, embryonic death, and resorption. In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, Möbius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions. We describe an additional case with severe limb deficiencies whose mother had fever over 39 degrees C for 2 days in the second and in the fourth month of amenorrhoea. We conclude that, based on the degree of development of the humeri and the femora and the type of limb deficiencies, this case presents a disruption that most probably occurred in the fourth month of gestation.