Genetic Etiologies of Craniosynostosis

Jabs, Ethylin Wang

doi:10.1002/0471221953.ch6

Cited by 11 publications

(4 citation statements)

References 74 publications

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“… Note . Diagnostic information compiled from clinical studies (Cohen & MacLean, ; Delahaye et al, ; Dodge, Wood, & Kennedy, ; Jabs, ; Reardon & Winter, ).…”

Section: Discussionmentioning

confidence: 99%

A multifaceted approach towards interpreting early life experience and infant feeding practices in the ancient Atacama Desert, Northern Chile

King

Snoddy

Millard

et al. 2018

Intl J of Osteoarchaeology

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Interpreting early life experience in the past is of considerable interest to archaeologists, yet remains fraught with difficulty. Children are sensitive barometers of population health in general. In addition, infant feeding practices, and stresses experienced during infancy and childhood, have important effects on adult health and demographic changes. Understanding how diet and physiological stress interact is therefore of significance, but most bony indicators of stress have non‐specific etiologies that cannot be tied to events during childhood. The recent advent of incremental isotopic techniques means we now have the potential to identify periods of stress and dietary change during childhood through changes to stable carbon and nitrogen isotopic ratios during tissue formation. Being able to establish these individual weaning trajectories allows us to consider individuality in past weaning choices, giving the bioarchaeologist a more nuanced picture of the past. Here, we investigate whether combining paleopathological and isotopic data can give insight into the synergy between infant feeding and stress. We present a case study of a 5‐year‐old child from an early agricultural period archaeological site in the northern Atacama Desert, Chile. We show that, despite physiological stress likely affecting isotopic ratios in this individual, a weaning curve is visible and the interpretation of weaning behaviour is possible. In addition, we suggest that there is isotopic evidence for a micronutrient deficient weaning diet that may be correlated with bony evidence for pathology.

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“… Note . Diagnostic information compiled from clinical studies (Cohen & MacLean, ; Delahaye et al, ; Dodge, Wood, & Kennedy, ; Jabs, ; Reardon & Winter, ).…”

Section: Discussionmentioning

confidence: 99%

A multifaceted approach towards interpreting early life experience and infant feeding practices in the ancient Atacama Desert, Northern Chile

King

Snoddy

Millard

et al. 2018

Intl J of Osteoarchaeology

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“…With increased insight into specific genetic causes, researchers have also begun to classify craniosynostosis in terms of specific genetic mutations (Wilkie, 1997;Jabs, 2002). In particular, mutations of the MSX2, TWIST and various fibroblast growth factor receptor genes are associated with a variety of craniosynostotic manifestations (Pulleyn et al, 1996;Lajeunie et al, 1999;Cohen, 2000b,c;see Reardon & Winter, 1995;Wilkie, 1997;Jabs, 2002, for review).…”

Section: Discussionmentioning

confidence: 99%

A case of squamosal craniosynostosis from the 16^th century southeastern United States

Duncan

Stojanowski

2007

Intl J of Osteoarchaeology

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This paper describes a case of plagiocephaly stemming from a unilateral synostosis of the left squamosal and coronal sutures in a 16 th century calvaria from Georgia. Although cases of squamosal involvement in syndromic, multisuture synostotic cases have been found in the archaeological record, isolated squamosal involvement is quite rare. Our literature review found only 15 such cases reported, and this is the first case to be reported from the southeastern United States. Despite the fact that the bevelled nature of the squamosal suture is unique in the human body and that the cause for squamosal involvement remains unclear, to our knowledge there have been no reviews of the nosology and aetiology of synostosis with particular reference to the squamosal suture in the anthropological or clinical literature. Isolated squamosal craniosynostosis may be frequently unreported in clinical settings, and thus case studies on the condition in archaeological contexts may prove valuable for future attempts to identify the frequency and causes of squamosal involvement. This case study also highlights both the potential and challenges of using rare pathological conditions as a tool for positive identification of human remains in historical forensic cases.

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“…Suture fusion is closely associated with changes in gene expression. Mutations in genes for fibroblast growth factor receptors, MSX2 and TWIST , have all been associated with premature suture fusion (craniosynostosis) (Jabs, 2002). Mutations in transforming growth factors beta (TGF‐βs) have not been associated with premature suture fusion.…”

Section: Introductionmentioning

confidence: 99%

Changes in Biomechanical Strain and Morphology of Rat Calvarial Sutures and Bone After Tgf‐β3 Inhibition of Posterior Interfrontal Suture Fusion

Shibazaki-Yorozuya

Wang

Dechow

et al. 2012

The Anatomical Record

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Craniofacial sutures are bone growth fronts that respond and adapt to biomechanical environments. Little is known of the role sutures play in regulating the skull biomechanical environment during patency and fusion conditions, especially how delayed or premature suture fusion will impact skull biomechanics. Tgf-β3 has been shown to prevent or delay suture fusion over the short term in rat skulls, yet the long-term patency or its consequences in treated sutures is not known. It was therefore hypothesized that Tgf-β3 had a long-term impact to prevent suture fusion and thus alter the skull biomechanics. In this study, collagen gels containing 3 ng Tgf-β3 were surgically placed superficial to the posterior interfrontal suture and deep to the periosteum in postnatal day 9 (P9) rats. At P9, P24, and P70, biting forces and strains over left parietal bone, posterior interfrontal suture, and sagittal suture were measured with masticatory muscles bilaterally stimulated, after which the rats were sacrificed and suture patency analyzed histologically. Results demonstrated that Tgf-β3 treated sutures showed less fusion over time than control groups, and strain patterns in the skulls of the Tgf-β3 treated group were different from that of the control group. While bite force increased with age, no alterations in bite force were attributable to Tgf-β3 treatment. These findings suggest that the continued presence of patent sutures can affect strain patterns, perhaps when higher bite forces are present as in adult animals.

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Genetic Etiologies of Craniosynostosis

Cited by 11 publications

References 74 publications

A multifaceted approach towards interpreting early life experience and infant feeding practices in the ancient Atacama Desert, Northern Chile

A multifaceted approach towards interpreting early life experience and infant feeding practices in the ancient Atacama Desert, Northern Chile

A case of squamosal craniosynostosis from the 16^th century southeastern United States

Changes in Biomechanical Strain and Morphology of Rat Calvarial Sutures and Bone After Tgf‐β3 Inhibition of Posterior Interfrontal Suture Fusion

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Genetic Etiologies of Craniosynostosis

Cited by 11 publications

References 74 publications

A multifaceted approach towards interpreting early life experience and infant feeding practices in the ancient Atacama Desert, Northern Chile

A multifaceted approach towards interpreting early life experience and infant feeding practices in the ancient Atacama Desert, Northern Chile

A case of squamosal craniosynostosis from the 16th century southeastern United States

Changes in Biomechanical Strain and Morphology of Rat Calvarial Sutures and Bone After Tgf‐β3 Inhibition of Posterior Interfrontal Suture Fusion

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A case of squamosal craniosynostosis from the 16^th century southeastern United States