Phenotypically Discordant Anomalies in Conjoined Twins: Quirks of Nature Governed by Molecular Pathways?

• Published in: Diagnostics (Basel) Vol. 13; no. 22; p. 3427
• Main Authors: Boer, Lucas L, Winter, Eduard, Gorissen, Ben, Oostra, Roelof-Jan
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 01.11.2023; MDPI
• Subjects: Anencephaly; anomalies; Asymmetry; Birth defects; Conjoined twins; discordances; embryology; Embryonic development; Etiology; Human health and pathology; Life Sciences; Morphology; Parasites; Twinning (Crystallography); France; Netherlands; Austria; embryology; conjoined twins; birth defects; anomalies; discordances
• ISSN: 2075-4418; 2075-4418
• DOI: 10.3390/diagnostics13223427

A multitude of additional anomalies can be observed in virtually all types of symmetrical conjoined twins. These concomitant defects can be divided into different dysmorphological patterns. Some of these patterns reveal their etiological origin through their topographical location. The so-called shared anomalies are traceable to embryological adjustments and directly linked to the conjoined-twinning mechanism itself, inherently located within the boundaries of the coalescence area. In contrast, discordant patterns are anomalies present in only one of the twin members, intrinsically distant from the area of union. These dysmorphological entities are much more difficult to place in a developmental perspective, as it is presumed that conjoined twins share identical intra-uterine environments and intra-embryonic molecular and genetic footprints. However, their existence testifies that certain developmental fields and their respective developmental pathways take different routes in members of conjoined twins. This observation remains a poorly understood phenomenon. This article describes 69 cases of external discordant patterns within different types of otherwise symmetrical mono-umbilical conjoined twins and places them in a developmental perspective and a molecular framework. Gaining insights into the phenotypes and underlying (biochemical) mechanisms could potentially pave the way and generate novel etiological visions in the formation of conjoined twins itself.