Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome

Kilcoyne, Sarah; Luscombe, Carrie; Scully, P; Jayamohan, Jayaratnam; Magdum, Shailendra; Wall, Steven A.; Johnson, David

doi:10.1097/scs.0000000000005241

Cited by 12 publications

(20 citation statements)

References 40 publications

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“…One major discovery is that restoration of suture patency not only rescues skull deformity but also normalizes ICP and restores neurocognitive function. Individuals with craniosynostosis often have learning disabilities (Kilcoyne et al, 2019;Twigg and Wilkie, 2015;Zechi-Ceide et al, 2012). Non-syndromic craniosynostosis affecting different cranial sutures may have differential effects on neurocognitive function (Sun et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis

Yuan

et al. 2021

Cell

105

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Section: Discussionmentioning

confidence: 99%

Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis

Yuan

et al. 2021

Cell

105

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“…A large number of gene mutations have been found to be related to craniosynostoses, e.g., mutations of the TWIST1 gene on chromosome 7p21.1 in the case of Saethre-Chotzen syndrome. However, environmental factors are also of importance for the development of these rare diseases [96,97]. Affected persons may suffer from severe consequences and dysfunctions, e.g., encephaloceles, hypertelorism, anterior open bite, temporomandibular joint malformations and airway obstructions [95,98,99].…”

Section: Congenital Structural Asymmetries Of the Facementioning

confidence: 99%

Symmetry and Aesthetics in Dentistry

Runte

Dirksen

2021

Symmetry

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Animal bodies in general and faces in particular show mirror symmetry with respect to the median-sagittal plane, with exceptions rarely occurring. Bilateral symmetry to the median sagittal plane of the body also evolved very early. From an evolutionary point of view, it should therefore have fundamental advantages, e.g., more effective locomotion and chewing abilities. On the other hand, the recognition of bilaterally symmetric patterns is an important module in our visual perception. In particular, the recognition of faces with different spatial orientations and their identification is strongly related to the recognition of bilateral symmetry. Maxillofacial surgery and Dentistry affect effective masticatory function and perceived symmetry of the lower third of the face. Both disciplines have the ability to eliminate or mitigate asymmetries with respect to form and function. In our review, we will demonstrate symmetric structures from single teeth to the whole face. We will further describe different approaches to quantify cranial, facial and dental asymmetries by using either landmarks or 3D surface models. Severe facial asymmetries are usually caused by malformations such as hemifacial hyperplasia, injury or other diseases such as Noma or head and neck cancer. This could be an important sociobiological reason for a correlation between asymmetry and perceived disfigurement. The aim of our review is to show how facial symmetry and attractiveness are related and in what way dental and facial structures and the symmetry of their shape and color influence aesthetic perception. We will further demonstrate how modern technology can be used to improve symmetry in facial prostheses and maxillofacial surgery.

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“…The TWIST1 expression inhibits FGFR2 expression. [29][30][31][32][33][34] The TWIST1 downregulation of FGFR2 expression also reduces the RUNX2 and other downstream osteoblast-specific genes in human calvarial osteoblasts. This mechanism was revealed in a study which provides genetic and biochemical evidence for a role of FGFR2 in the altered osteoblast phenotype induced by TWIST1 in SCS patients.…”

Section: Discussionmentioning

confidence: 99%

TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients

et al. 2023

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The TWIST1 gene codes for a highly conserved transcription factor in a basic helix–loop–helix transcription factors family. The pattern of inheritance is autosomal dominant in Saethre–Chotzen syndrome, Robinow–Sorauf syndrome, and Sweeney–Cox syndrome. Major features of these syndromes include coronal synostosis, vision problems, and deafness, and facial features include hypertelorism, low-set ears, arched eyebrows, beaked nose, maxillary hypoplasia, and other dysmorphisms including broad great toes, clinodactyly, brachydactyly, and cutaneous syndactyly. TWIST1 (bHLH) transcription factor regulates the formation of head and limbs in the embryo. We describe three families affected with craniosynostosis in whom a sporadic TWIST1 variant was identified on whole exome sequencing, chromosomal microarray, and Sanger sequencing.

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Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome

Abstract: Given the importance of hearing for language development and the preliminary findings of a potential decline in language skills in children during periods of intracranial hypertension, regular follow up of hearing, language and intracranial hypertension is indicated in children with SCS.

Cited by 12 publications

References 40 publications

Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis

Cranial Suture Regeneration Mitigates Skull and Neurocognitive Defects in Craniosynostosis

Symmetry and Aesthetics in Dentistry

TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients

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