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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Anencephaly | 10A0 Case 10 History
Case 10 History ---- This female infant was born at 39 weeks and 2 days via vaginal delivery to a 35 year-old mother G3P2 with body weight of 2780 grams. The fetus had been diagnosed with absence of the calvarium and exencephaly on ultrasound examination at 12 weeks. She was the third child born to this family. One of her siblings, now 5-years-old, has Ellis-van Creveld syndrome, an autosomal recessive dwarfing syndrome which includes acromelic-micromelic dwarfism, ectodermal dysplasia, postaxial polydactyly of the hands and congenital heart disease. She survived labor and had spontaneous respiratory effort and maintained heart rate and perfusion. However, at about 20.5 hours of life she started to have agonal respiratory effort and an increased dusky appearance and died shortly thereafter.
Since the child was near term at delivery her course represents examination at several times during fetal development which has culminated in the appearance of anencephaly at birth and autopsy. It is generally thought that acrania and exencephaly may be the early substrates for anencephaly which results from mechanical insults to the developing brain during later fetal development or damage caused by direct exposure of the brain to the amniotic fluid.
