Molecular Mechanisms Involved in Craniosynostosis

Yapijakis, Christos; Pachis, Nikolaos; Sotiriadou, Triantafyllia; Vaila, Christina; Michopoulou, Vasiliki; Vassiliou, Stavros

doi:10.21873/invivo.13052

Cited by 6 publications

(3 citation statements)

References 74 publications

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“…Craniosynostosis, syndromic with fused or open spheno-occipital synchondrosis: Patients with syndromic craniosynostosis usually have more severe symptomatology in comparison to patients with single suture synostosis [91]. The fused group of patients showed a higher percentage of severe midface deficiency than the non fused group (70% versus 10%).…”

Section: Q112 Deletion Syndrome (Omim 611867)mentioning

confidence: 99%

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Paltoglou,

Ziakas,

Chrousos

et al. 2024

Preprint

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Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological center of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of the relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the key words: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and “Turner syndrome”; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its etiology. The angular cephalometric measurements differ from the average height normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusion: The greater part of the existing literature regarding cephalometric measurements in short statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature, should be the focus of future studies. These quantitative data are required to potentially establish cut-off values to refer for genetic testing based on craniofacial phenotypes.

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Section: Q112 Deletion Syndrome (Omim 611867)mentioning

confidence: 99%

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Paltoglou,

Ziakas,

Chrousos

et al. 2024

Preprint

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“…В случаях, когда после осмотра неонатолога и генетика почти не остается сомнений в диагнозе, достаточно проведения прямого Синдром Пфайффера: современный взгляд на особенности течения у новорожденных детей (обзор литературы) секвенирования экзома, в ходе которого анализируются практически все гены человека, в том числе и FGFR1, FGFR2. У более сложных в плане диагностики пациентов с множественными аномалиями других органов и систем проводится кариотипирование или FISH для дальнейшего диагностического поиска [5,9,16,33].…”

Section:  постнатальная диагностикаunclassified

A Modern View of the Peculiarities of Managing Children with Pfeiffer Syndrome (A Literature Review)

Православная,

Саркисян,

Ворона

et al. 2023

Педиатрия. Восточная Европа

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Синдром Пфайффера (СП, акроцефалосиндактилия типа V, Q87.0) – редкое наследственное заболевание с широким спектром клинических проявлений, относящееся к краниостенозам. Встречается у 1 из 100 000 новорожденных, не зависит от половой принадлежности или национальности. Проявляется гипертелоризмом и проптозом глаз, гипоплазией верхней челюсти, нарушением слуха, аномальным развитием конечностей и, в тяжелых случаях, нарушением нейропсихического развития. Снижение интеллекта часто связано с отсроченной постановкой диагноза. Предугадать рождение ребенка с СП возможно лишь в 50% случаев, в остальном – это результат мутации de novo. Решающим диагностическим мероприятием является проведение молекулярно-генетического тестирования и выявление дефектов в генах FGFR1 и/ или FGFR2. В мировой научной литературе в настоящее время недостаточно исследований, посвященных СП, с чем связаны трудности постановки диагноза и дальнейшее ведение пациентов. Лечение включает в себя хирургическую коррекцию существующих пороков и консервативную терапию нарушений со стороны внутренних органов и систем. Качество жизни пациентов с СП зависит от срока диагностики и обеспечения своевременной медицинской помощи. Pfeiffer syndrome (SP, acrocephalosyndactyly type V, Q87.0) is a rare hereditary disease with a wide range of clinical manifestations related to craniostenosis. It occurs in 1 in 100,000 newborns, regardless of gender or nationality. It is manifested by hypertelorism and proptosis of the eyes, hypoplasia of the upper jaw, hearing impairment, abnormal development of the limbs and, in severe cases, a violation of neuropsychic development. Decreased intelligence is often associated with delayed diagnosis. It is possible to predict the birth of a child with SP only in 50% of cases, otherwise it is the result of a de novo mutation. A crucial diagnostic measure is the conduct of molecular genetic testing and the detection of defects in the FGFR1 and/or FGFR2 genes. Currently, there are not enough studies on SP in the world scientific literature, which is why it is difficult to diagnose and further manage patients. Treatment includes surgical correction of existing defects and conservative therapy of organ lesions. The quality of life of patients with SP depends on early diagnosis and provision of timely medical care.

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“…Craniosynostosis is a disorder that is expected to appear in 1 out of 2,500 live births, 15% of the cases are diagnosed as syndromic [16]. Syndromic craniosynostosis occurs as a result of the premature fusion of one or more cranial sutures in the early stages of the skull development.…”

Section: Introductionmentioning

confidence: 99%

Determining the Cause of Optic Nerve Atrophy in Syndromic Craniosynostosis Using Logistic Regression

Obaidellah,

Mohamed,

Abdullah

et al. 2023

Preprint

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The restricted intracranial volume in syndromic craniosynostosis is due to limited skull expansion caused by early fusion of multiple cranial sutures. This led to progressive increased in intracranial pressure which has long been established as the cause of optic nerve damage. Optic nerve damage secondary to the narrowing of optic canal in syndromic craniosynostosis has been reported but not comprehensively explored. The objective of this study is to predict using logistic regression the cause of optic nerve atrophy is caused by increased intracranial pressure or structural narrowing of optic canal. The study involved 11 measurements of features of the optic canals as predictor variables. A binary logistic regression and variable selection method were applied to the 11 measurements to choose the best combination of the predictors. The results show good models that could be considered a suitable representation of the data. The height at the optical cranial side is the most dominant feature in the top 20 models that specifies the syndromic patients, followed by the area and the perimeter for both optic canals, then the length of the medial wall and the diameter at the mid canal for right and left canal respectively. The paper's findings provide significant evidence for using this method as an alternative to determine if the cause of optic nerve atrophy is related to either increased intracranial pressure or narrowing optic canal structure among syndromic craniosynostosis patients, thus saving the patient from ineffective operations, additional risks, and waste of resources.

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Molecular Mechanisms Involved in Craniosynostosis

Cited by 6 publications

References 74 publications

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology. A Review

A Modern View of the Peculiarities of Managing Children with Pfeiffer Syndrome (A Literature Review)

Determining the Cause of Optic Nerve Atrophy in Syndromic Craniosynostosis Using Logistic Regression

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