Malformations of the cranium, vertebral column, and related central nervous system: Morphologic heterogeneity may indicate biological diversity

Davies, Belinda R.; Durán, Marco A

doi:10.1002/bdra.10080

Cited by 16 publications

(20 citation statements)

References 30 publications

(39 reference statements)

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“…Second, certain craniofacial pathologies suggest developmental interactions of skull, meninges, and brain in morphogenesis of the head. As examples: (a) when the brain is absent (anencephaly), the calvarial bones do not form (acrania) (Zhao et al, '96;Dambska et al, 2003;Davies and Duran, 2003;Frey and Hauser, 2003); (b) hydrocephalus results in a greatly increased cerebral mass and thinned, but expanded, calvarial bones (Morimoto et al, 2003); and (c) lack of brain growth (microcephaly) produces a small skull with fused sutures (Chervenak et al,'84). Third, many studies have shown the role of dura as intermediary between brain and skull development.…”

Section: Interaction Of Developing Brain Meningesmentioning

confidence: 97%

Phenotypic integration of neurocranium and brain

Richtsmeier¹,

Aldridge²,

DeLeon³

et al. 2006

J. Exp. Zool.

152

171

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Evolutionary history of Mammalia provides strong evidence that the morphology of skull and brain change jointly in evolution. Formation and development of brain and skull co-occur and are dependent upon a series of morphogenetic and patterning processes driven by genes and their regulatory programs. Our current concept of skull and brain as separate tissues results in distinct analyses of these tissues by most researchers. In this study, we use 3D computed tomography and magnetic resonance images of pediatric individuals diagnosed with premature closure of cranial sutures (craniosynostosis) to investigate phenotypic relationships between the brain and skull. It has been demonstrated previously that the skull and brain acquire characteristic dysmorphologies in isolated craniosynostosis, but relatively little is known of the developmental interactions that produce these anomalies. Our comparative analysis of phenotypic integration of brain and skull in premature closure of the sagittal and the right coronal sutures demonstrates that brain and skull are strongly integrated and that the significant differences in patterns of association do not occur local to the prematurely closed suture. We posit that the current focus on the suture as the basis for this condition may identify a proximate, but not the ultimate cause for these conditions. Given that premature suture closure reduces the number of cranial bones, and that a persistent loss of skull bones is demonstrated over the approximately 150 million years of synapsid evolution, craniosynostosis may serve as an informative model for evolution of the mammalian skull.

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Section: Interaction Of Developing Brain Meningesmentioning

confidence: 97%

Phenotypic integration of neurocranium and brain

Richtsmeier¹,

Aldridge²,

DeLeon³

et al. 2006

J. Exp. Zool.

152

171

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“…The developmental link between skull and brain becomes evident from medical disorders that affect the morphogenesis of both structures jointly (Cohen et al, 1992;Aldridge et al, 2002Aldridge et al, , 2005aAldridge et al, , b, 2007. Some examples include anencephaly, in which brain absence relates to abnormal formation of vault bones (Dambska et al, 2003;Davies and Duran, 2003;Frey and Hauser, 2003), and hydrocephaly, characterized by an excessive accumulation of cerebrospinal fluid that increases neurocranial size (Morimoto et al, 2003). Recent studies have described epigenetic mechanisms, including physical interactions and molecular signaling of embryonic brain tissues on craniofacial structures, that account for the early and close relation between the brain and facial prominences (Boughner et al, 2008;Marcucio et al, 2011;Richtsmeier and Flaherty, 2013).…”

mentioning

confidence: 99%

Prenatal development of skull and brain in a mouse model of growth restriction

Barbeito‐Andrés¹,

González²,

Hallgrímsson³

2016

rev arg antrop biol

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Patterns of covariation result from the overlapping effect of several developmental processes. By perturbing certain specific developmental processes, experimental studies contribute to a better understanding of their particular effects on the generation of phenotype. The aim of this work was to analyze the interactions among morphological traits of the skull and the brain during late prenatal life (18.5 days postconception) in mice exposed to maternal protein undernutrition. Images from the skull and brain were obtained through micro-computed tomography and 3D landmark coordinates were digitized in order to quantify shape and size of both structures with geometric morphometric techniques. The results highlight a systemic effect of protein restriction on the size of the skull and the brain, which were both significantly reduced in the undernourished group compared to control group. Skull shape Key woRdS maternal protein restriction; phenotypic integration; cranial modules; micro-CT is partially explained by brain size, and patterns of shape variation were only partially coincident with previous reports for other ontogenetic stages, suggesting that allometric trajectories across pre-and postnatal ages change their directions. Within the skull, neurocranial and facial shape traits covaried strongly, while subtle covariation was found between the shape of the skull and the brain. These findings are in line with former studies in mutant mice and reveal the importance of carrying out analyses of phenotypic variation in a broad range of developmental stages. The present study contributes to the basic understanding of epigenetic relations among growing tissues and has direct implications for the field of paleoanthropology, where inferences about brain morphology are usually derived from skull remains. Rev Arg Antrop Biol 18 (1) PAlABRAS ClAve restricción proteica materna; integración fenotípica; módulos craneanos; micro-TC ReSUMeN Los patrones de covariación entre rasgos fenotí-picos resultan de la acción de diversos procesos que se solapan durante el desarrollo. Los estudios experimentales constituyen la aproximación más adecuada para evaluar el efecto de procesos específicos en la generación de tales patrones. El objetivo de este trabajo es analizar las interacciones entre rasgos morfológicos craneofaciales y cerebrales durante la vida prenatal tardía (18,5 días posconcepción) en ratones expuestos a desnutrición proteica materna. Se obtuvieron imá-genes del cráneo y cerebro a partir de microtomografía computada y se digitalizaron landmarks en 3D para cuantificar la forma y tamaño con técnicas de morfometría geométrica. Los resultados subrayan un efecto sistémico de la restricción proteica en el tamaño del cráneo y el cerebro. La forma del cráneo es parcialmente explicable por el tamaño cerebral y los patrones de variación en forma fueron sólo en parte coincidentes con los reportados antes para otras edades, lo cual sugiere que las trayectorias alométricas a lo largo de la vida pre-y posnatal cambian su direc...

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“…Although probably multifactorial, there may be a genetic factor in the ABDC, possibly for a dominant gene on the X chromosome. The finding may be related to the female predominance that occurs in certain types of neural tube defects without bands, anencephaly, and lumbar spina bifida [35].…”

Section: Discussionmentioning

confidence: 94%

Comparison of the Amniotic Band Disruption Complex With Acardiac Twins Does Not Support Its Vascular Origin

Davies

Giménez-Scherer

2007

Fetal and Pediatric Pathology

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The amniotic band disruption complex (ABDC) has been attributed to vascular disruption by some authors, not by others. Acardiac twins (ATs), however, have been generally accepted as a prime example of vascular disruption. In this study a comparison was made of these two entities to determine if they were similar or not, and thus we attempted to resolve the controversy of the mechanisms in the ABDC. A female tendency (2:1) was found in the ABDC in contrast to the "normal" sex distribution (0.88:1) in the ATs (p < 0.001). Most types of malformations (66%) were mutually exclusive, notably those of the cranium/brain, abdominal wall, and most internal organs; 83% were more significantly related to one or other of the entities. The ABDC malformations tended to occur unilaterally, but in the ATs they occurred bilaterally (p < 0.0001); the former tended to involve external organs and the latter internal organs (p < 0.0001). With so many differences, the two entities are unlikely due to the same mechanism: the ABDC is more likely to be due to external disruption.

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Malformations of the cranium, vertebral column, and related central nervous system: Morphologic heterogeneity may indicate biological diversity

Cited by 16 publications

References 30 publications

Phenotypic integration of neurocranium and brain

Phenotypic integration of neurocranium and brain

Prenatal development of skull and brain in a mouse model of growth restriction

Comparison of the Amniotic Band Disruption Complex With Acardiac Twins Does Not Support Its Vascular Origin

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