scholarly journals Elevated Cranial Sutural Complexity in Burrowing Dicynodonts

2021 ◽  
Vol 9 ◽  
Author(s):  
Christian F. Kammerer

Relationships between the complexity of the cranial sutures and the inferred ecology of dicynodont synapsids are explored. Simple complexity indices based on degree of sutural interdigitation were calculated for 70 anomodont species and indicate that the naso-frontal sutures of Cistecephalidae, a clade inferred to be dedicated fossors based on aspects of postcranial morphology, are substantially more complex than those of other dicynodonts. The elevated complexity of the naso-frontal suture in this clade is interpreted as being related to compressive forces sustained during burrowing, paralleling the condition in some other fossorial vertebrate groups (e.g., amphisbaenians). The most highly interdigitated sutures in the cistecephalid skull are those oriented transversely to its long axis, which would experience the greatest longitudinal stresses from contact with the substrate. Although it is uncertain to what degree cistecephalid burrowing was based on scratch vs. head-lift digging, it is argued that the head played an important role during locomotion in this group. Increased sutural complexity, rather than cranial fusion, as an adaptation to resisting compressive forces during burrowing may be related to indeterminate growth in dicynodonts.

2019 ◽  
Vol 98 (5) ◽  
pp. 40-46
Author(s):  
A.A. Sufianov ◽  
◽  
O.N. Sadykova ◽  
R.A. Sufianov ◽  
I.A. Iakimov ◽  
...  

2021 ◽  
Vol 6 (1) ◽  
pp. e000677
Author(s):  
Evangelia Ntoula ◽  
Daniel Nowinski ◽  
Gerd Holmstrom ◽  
Eva Larsson

AimsCraniosynostosis is a congenital condition characterised by premature fusion of one or more cranial sutures. The aim of this study was to analyse ophthalmic function before and after cranial surgery, in children with various types of non-syndromic craniosynostosis.MethodsChildren referred to Uppsala University Hospital for surgery of non-syndromic craniosynostosis were examined preoperatively. Visual acuity was measured with Preferential Looking tests or observation of fixation and following. Strabismus and eye motility were noted. Refraction was measured in cycloplegia and funduscopy was performed. Follow-up examinations were performed 6–12 months postoperatively at the children’s local hospitals.ResultsOne hundred twenty-two children with mean age 6.2 months were examined preoperatively. Refractive values were similar between the different subtypes of craniosynostosis, except for astigmatism anisometropia which was more common in unicoronal craniosynostosis. Strabismus was found in seven children, of which four had unicoronal craniosynostosis.Postoperatively, 113 children were examined, at mean age 15.9 months. The refractive values decreased, except for astigmatism and anisometropia in unicoronal craniosynostosis. Strabismus remained in unicoronal craniosynostosis. Two new cases with strabismus developed in unicoronal craniosynostosis and one in metopic, all operated with fronto-orbital techniques. No child had disc oedema or pale discs preoperatively or postoperatively.ConclusionOphthalmic dysfunctions were not frequent in children with sagittal craniosynostosis and preoperative ophthalmological evaluation may not be imperative. Children with unicoronal craniosynostosis had the highest prevalence of strabismus and anisometropia. Fronto-orbital techniques used to address skull deformity may be related to a higher prevalence of strabismus postoperatively.


2019 ◽  
Vol 28 (15) ◽  
pp. 2501-2513 ◽  
Author(s):  
Jacqueline A C Goos ◽  
Walter K Vogel ◽  
Hana Mlcochova ◽  
Christopher J Millard ◽  
Elahe Esfandiari ◽  
...  

Abstract Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. BCL11B is a transcription factor that interacts directly with the nucleosome remodelling and deacetylation complex (NuRD) and polycomb-related complex 2 (PRC2) through the invariant proteins RBBP4 and RBBP7. The p.R3S substitution occurs within a conserved amino-terminal motif (RRKQxxP) of BCL11B and reduces interaction with both transcriptional complexes. Equilibrium binding studies and molecular dynamics simulations show that the p.R3S substitution disrupts ionic coordination between BCL11B and the RBBP4–MTA1 complex, a subassembly of the NuRD complex, and increases the conformational flexibility of Arg-4, Lys-5 and Gln-6 of BCL11B. These alterations collectively reduce the affinity of BCL11B p.R3S for the RBBP4–MTA1 complex by nearly an order of magnitude. We generated a mouse model of the BCL11B p.R3S substitution using a CRISPR-Cas9-based approach, and we report herein that these mice exhibit craniosynostosis of the coronal suture, as well as other cranial sutures. This finding provides strong evidence that the BCL11B p.R3S substitution is causally associated with craniosynostosis and confirms an important role for BCL11B in the maintenance of cranial suture patency.


2010 ◽  
Vol 55 (3) ◽  
pp. 690-694 ◽  
Author(s):  
Sebastian Harth ◽  
Martin Obert ◽  
Frank Ramsthaler ◽  
Christina Reuß ◽  
Horst Traupe ◽  
...  

2009 ◽  
Vol 11 ◽  
pp. S186-S189 ◽  
Author(s):  
Sebastian Harth ◽  
Martin Obert ◽  
Frank Ramsthaler ◽  
Christina Reuß ◽  
Horst Traupe ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1073
Author(s):  
Federica Tiberio ◽  
Ornella Parolini ◽  
Wanda Lattanzi

Craniosynostosis (CS) is the second most prevalent inborn craniofacial malformation; it results from the premature fusion of cranial sutures and leads to dimorphisms of variable severity. CS is clinically heterogeneous, as it can be either a sporadic isolated defect, more frequently, or part of a syndromic phenotype with mendelian inheritance. The genetic basis of CS is also extremely heterogeneous, with nearly a hundred genes associated so far, mostly mutated in syndromic forms. Several genes can be categorised within partially overlapping pathways, including those causing defects of the primary cilium. The primary cilium is a cellular antenna serving as a signalling hub implicated in mechanotransduction, housing key molecular signals expressed on the ciliary membrane and in the cilioplasm. This mechanical property mediated by the primary cilium may also represent a cue to understand the pathophysiology of non-syndromic CS. In this review, we aimed to highlight the implication of the primary cilium components and active signalling in CS pathophysiology, dissecting their biological functions in craniofacial development and in suture biomechanics. Through an in-depth revision of the literature and computational annotation of disease-associated genes we categorised 18 ciliary genes involved in CS aetiology. Interestingly, a prevalent implication of midline sutures is observed in CS ciliopathies, possibly explained by the specific neural crest origin of the frontal bone.


2021 ◽  
Vol 150 (4) ◽  
pp. A185-A185
Author(s):  
Eetu Kohtanen ◽  
Matteo Mazzotti ◽  
Massimo Ruzzene ◽  
Alper Erturk

1876 ◽  
Vol 22 (98) ◽  
pp. 196-201 ◽  
Author(s):  
T. Claye Shaw

There is a general idea expressed in text-books, and more or less freely asserted in practice, but which I shall prove to be a fallacy, that a high-arched palate is so frequently met with in idiocy and imbecility that it may be taken as a sign of their existence. Indeed, when a case of this kind is brought forward the patient is made to open his mouth, under the conviction that a high palate will be found as certainly as a superficial alteration of the tongue in gastric disturbance. We shall see that the connection is an accidental one; and there is, in reality, no relationship between the development of the intellect and the height and width of the palate. If we consider that the bones of the cranium are developed in a different manner from those of the face, and that ossification at the base is complete long before that of the bones forming the palate, it is clear that there can be no primâ facie reason for thinking that because a person has an imperfect brain he should therefore have an imperfect palate; yet such an interdependence is held. It is quite true that a constitutional taint, such as rickets or syphilis, which affects the ossification of the bones generally and the cranial sutures, would probably affect the palatine bones, and hence it is that many idiots and imbeciles are found to have high or imperfect palates: but on the other hand some modifying taint may dwarf the height of the body, may affect the shape of the head to such an extent as to make an idiot of the microcephalic type, and yet leave the palate untouched, perfect in all conditions of width, height, number, quality, and regularity of teeth.


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