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Purpose: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies.Materials and Methods: Radiographs of 67 deceased fetuses, neonates, and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates, and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed.Results: Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Χ2(1) = 6.252, p = .012 and 28/97, 28.9%, Χ2(1) = 10.955, p < .001, respectively).Conclusions: Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21. [ABSTRACT FROM AUTHOR]

Fluctuating asymmetry (FA) is the small random deviation from perfect symmetry in bilateral traits and is often used to assess developmental instability (DI) experienced by organisms. In this study, with a unique dataset of 1389 deceased human fetuses, we investigated the relationship between abnormal development and human limb FA in different ways, using a more fundamental approach than usually done. We studied whether there is an underlying developmental basis of DI, as measured by FA, by investigating, first, whether limb FA can be attributed to developmental abnormalities associated with specific organ systems, germ layers or patterning processes, and second, whether limb FA increases with increasing number of developmental abnormalities either gradually, or in a threshold-like fashion. Limb FA was found to increase in fetuses with cardiovascular and nervous system abnormalities. Fetuses with ectoderm-derived abnormalities were also found to have significantly higher limb FA, but no other germ layers were found to be associated. We found no significant correlation between specific developmental processes, such as neural crest development, segmentation, midline and left-right patterning and limb FA. Although only some congenital abnormalities were correlated with limb FA, our results do suggest that limb FA increases when an increasing number of organ systems, germ layers or developmental pathways are disrupted. Therefore, we conclude that limb FA is mainly a good indicator for DI in the case of particularly severe perturbations of development and that FA does not reflect the subtler deviations from developmental stability. [ABSTRACT FROM AUTHOR]

The often observed directional asymmetry in human limb bones could have a genetic basis. Alternatively, differences in limbs across sides could emerge from different mechanical loadings on the left and right side as a result of behavioral lateralization. Because handedness in itself has a genetic basis, it has been suggested that directional asymmetry in limbs could develop prenatally as a pre-adaptation to adult life. The developmental origins of limb asymmetry and the presence of directional asymmetry have important implications for the use of directionally random asymmetry (i.e., fluctuating asymmetry) as a measure of developmental instability (the inability of an organism to buffer its development against random noise). We study asymmetry in limb bones of deceased fetuses. We predict that if the direct effects of handedness (asymmetric mechanical loadings) would predominantly affect directional asymmetry, it would be absent in fetal limbs. However, because genes involved in the asymmetrical positioning of internal organs (situs solitus) also play a role in limb development, directional asymmetry may also emerge during early fetal stages. In a sample of over 500 fetuses, no indication of directional asymmetry was found in several limb bones. In addition, directional asymmetry did not emerge in the older fetuses either. We suggest that morphological asymmetries in fetal limb bones corresponded to fluctuating asymmetry measuring developmental instability. High levels of developmental integration found in our dataset could explain the overall low levels of asymmetry found in our study. [ABSTRACT FROM AUTHOR]

Background: Cervical patterning abnormalities are rare in the general population, but one variant, cervical ribs, is particularly common in deceased fetuses and neonates. The discrepancy between the incidence in the general population and early mortality is likely due to indirect selection against cervical ribs. The cause for the co-occurrence of cervical ribs and adverse outcome remains unidentified. Copy number variations resulting in gain or loss of specific genes involved in development and patterning could play a causative role., Methods: Radiographs of 374 deceased fetuses and infants, including terminations of pregnancies, stillbirths and neonatal deaths, were assessed. Copy number profiles of 265 patients were determined using single nucleotide polymorphism array., Results: 274/374 patients (73.3%) had an abnormal vertebral pattern, which was associated with congenital abnormalities. Cervical ribs were present in 188/374 (50.3%) and were more common in stillbirths (69/128 [53.9%]) and terminations of pregnancies (101/188 [53.7%]), compared to live births (18/58, 31.0%). Large (likely) deleterious copy number variants and aneuploidies were prevalent in these patients. None of the rare copy number variants were recurrent or overlapped with candidate genes for vertebral patterning., Conclusions: The large variety of copy number variants in deceased fetuses and neonates with similar abnormalities of the vertebral pattern probably reflects the etiological heterogeneity of vertebral patterning abnormalities. This genetic heterogeneity corresponds with the hypothesis that cervical ribs can be regarded as a sign of disruption of critical, highly interactive stages of embryogenesis. The vertebral pattern can probably provide valuable information regarding fetal and neonatal outcome., (© 2020 The Authors. Birth Defects Research published by Wiley Periodicals LLC.)

Disturbance from the normal developmental trajectory of a trait during growth-the so-called developmental instability-can be observed morphologically through phenodeviants and subtle deviations from perfect symmetry (fluctuating asymmetry). This study investigates the relationship between phenodeviance in the human vertebral column (as a result of axial patterning defects) and limb fluctuating asymmetry. Since both types of markers of developmental instability have been found associated with congenital abnormalities in humans, we anticipate a relationship between them if the concept of developmental instability, measured through either phenodeviants or asymmetry, would reflect an organism-wide process. Yet we did not find any support for this hypothesis. We argue that the vast differences in the developmental processes involved in both systems renders these two markers of developmental instability unrelated, in spite of their associations with other congenital abnormalities. Our results thus contribute to the growing awareness that developmental instability is not an organism-wide property., Competing Interests: The authors declare there are no competing interests.

Articular cartilage was examined to determine its decomposition sequence and its potential for assessing the postmortem interval. Scanning electron microscopy of articular cartilage from buried porcine trotters showed the presence of microcrystals on the synovial surface. These orthorhombic pyramidal or "coffin"-shaped crystals, appeared at 3 weeks (22 days) after interment and disappeared after 6 weeks. The disappearance of these crystals was linked to decompositional changes to the integrity of the synovial joint. The formation and disappearance of these crystals was associated with a pH change at the cartilage surface. Scanning electron microscopy-energy-dispersive X-ray (SEM-EDX) analysis showed that the five main elements contained within these crystals were carbon, nitrogen, oxygen, magnesium, and phosphorous. Such elemental analysis suggested the crystals may be struvite (MgNH4 PO4 6(H2 O)). Bacteria cultured from the cartilage synovial surface produced struvite crystals when grown in suitable media and were identified by DNA analysis to be Comamonas sp., (© 2014 American Academy of Forensic Sciences.)

The number of cervical vertebrae in mammals is highly conserved at seven. We have shown that changes of this number are selected against due to a coupling with major congenital abnormalities (pleiotropic effects). Here we show that the incidence of abnormal cervical vertebral numbers in Late Pleistocene mammoths from the North Sea is high (33.3%) and approximately 10 times higher than that of extant elephants (3.6%). Abnormal numbers were due to the presence of large cervical ribs on the seventh vertebra, which we deduced from the presence of rib articulation facets on sixth (posterior side) and seventh (anterior side) cervical vertebrae. The incidence of abnormal cervical vertebral numbers in mammoths appears to be much higher than in other mammalian species, apart from exceptional sloths, manatees and dugongs and indicates a vulnerable condition. We argue that the increased incidence of cervical ribs in mammoths is probably caused by inbreeding and adverse conditions that impact early pregnancies in declining populations close to extinction in the Late Pleistocene.

Recent studies have suggested that the ratio of the length of the second and fourth digit (2D:4D) may be associated with developmental instability (DI) as measured by the left-right asymmetry of the same digits. Because the 2D:4D ratio is amongst others, determined prenatally as a result of exposure to sex hormones, such an association could indicate that the same prenatal developmental processes determine levels of DI. In this study we criticize these earlier findings and show by simulations that they are confounded by the fact that (non-) linear combinations of the digit lengths are used as both dependent (average asymmetry in digits 2 and 4) and independent (ratio of the lengths of digits 2 and 4) variable. We therefore studied associations between 2D:4D ratios and asymmetry not only in digits but also in several other skeletal elements in deceased human fetuses. In contrast to the earlier studies, we did not find an association between 2D:4D ratios and asymmetry in digits 2 and 4. We argue that this may be due to the low levels of DI in this study, which limits the confounding effects of DI. Also, no associations were detected with the asymmetry of all other trait either. Thus, there appears to be very little evidence of any link between DI and 2D:4D in this population for limb measurements. We conclude that highly stabilized and functionally important traits such as human limbs may in general show limited increases in asymmetry with prenatal stress.