The german term Bauplan means body-plan, but captures also the idea of the architectural constraints existing in such a functional design. There are only a few animal Bauplane, and each phylum is characterized by one of them. Major Bauplan's modifications within a taxon are not tolerated. The concept is common between the zoologists, but usually is not employed in human pathology. Our hypothesis is that an approach to the birth defects in terms of basic body-plan results in a better understanding of the human ontogenetic and phylogenetic development. We observed 30 interrupted pregnancies owing to severe structural fetal malformations. A pathological study was performed in all the fetuses. We found the following syndromes and anomalies: Meckel-Gruber syndrome 1; Cantrell's pentalogy 1; Ivemark syndrome 1; Omphalocele-radial hypoplasia complex 1; Triploid syndrome 1; Malformative associations including encephalic anomalies 3; SNC isolated abnormalities (comprehensive of 10 neural tube defects) 16; Gastroschisis 1; Complex cardiac anomalies 3; Kidney defects, including bilateral renal agenesis 2; According to our study, three major Bauplan defects are detectable in the aborted fetuses. They are concerning with: (1) cephalization, (2) laterality, (3) closure of the fetal body surface, and all of them are related to a midline pathology. These results are in agreement with the belonging of our species to the chordates deuterostomata and suggest that the human Bauplan begins to appear in the early blastogenesis, when the nothocord appears and neurulation occurs. In this period the embryo seems to act as a single morphogenetic unit, so that blastogenetic defects are frequently multisystem abnormalities. 1/3 of the fetuses presented complex malformative disorders. Besides being a source for studies of evolutionary developmental biology (Evo-Devo), the investigation on human blastogenesis and organogenesis through an oriented evaluation of the birth defects could have in the future unexpected therapeutic relevance.
Read full abstract