PubMed · 1222992
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M Madhavan, A L Aurora, B S Subhas, P N Nayak. 1975. Holocardius acephalus.. https://doi.org/10.1007/bf02856230
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Here we report on an apparently unprecedented case of virtually complete absence of the left half of the body, with resulting severe deformity of the right half. The fetus was stillborn with polyhydramnios at 31 1/2 weeks of gestational age. A second patient may be a mild example of this extraordinary phenomenon with deficiency of organs, predominantly on the left side. The nosology and developmental implications are discussed briefly.
Six fetuses with normal chromosomes were found to have severe craniofacial, limb, and visceral malformations during the second trimester of pregnancy. Two of these fetuses were monozygotic twins while a third one had a healthy dizygotic twin brother. A case with familial recurrence was also observed. Autopsy and skeletal radiographs suggested several diagnoses such as neural tube defect with limb defects or XK aprosencephaly. The development of these severe conditions in monozygotic twins and familial recurrence emphasize the difficulties of genetic counseling in such situations. These cases may suggest autosomal recessive inheritance.
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