Clinical interest of molecular study in cases of isolated midline craniosynostosis

Rocco, F. Di; Rossi, Massimiliano; Verlut, Isabelle; Szathmari, A.; Beuriat, P.A.; Chatron, Nicolas; Chauvel-Picard, J.; Mottolèse, C.; Monin, Pauline; Vinchon, Matthieu; Guernouche, Sofia; Collet, Corinne

doi:10.1038/s41431-023-01295-y

Cited by 9 publications

(2 citation statements)

References 39 publications

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“…In AS and CS patients, broblasts cannot produce the essential brous material in several craniofacial tissues, including bone sutures and cartilage, or during odontoblast formation and regeneration (Di Rocco et al, 2023;Elarjani et al, 2021;Hoshino et al, 2023). Most of the variations are missense variations in FGFR2 leading to craniofacial dysmorphism and hand and foot malformations.…”

Section: Introductionmentioning

confidence: 99%

FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysis

Dhiman,

Panigrahi,

Padhi

et al. 2024

Preprint

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Background This study aimed to compare the prevalence of craniofacial dysmorphisms, such as maxillary, mandibular, and dental arch dimensions, and cranial suture fusion in Apert and Crouzon syndrome patients from publicly available scientific information and to provide insights to improve the findings of further studies. Over a large-scale interval from January 2000 to January 2023, a comprehensive search was performed on different database platforms: PubMed, Google Scholar, Cochrane, Web of Science, and the Wiley online library. The preferred reporting item for Systematic Review and Meta-Analyses (PRISMA) guidelines were followed to conduct this systematic review. The protocol was submitted to the International Prospective Register of Systematic Reviews (CRC42023395454; https://www.crd.york.ac.uk/prospero/record_email.php) on 11 February 2023. We collected the data from different databases and ranked the publications based on their adherence to the Newcastle‒Ottawa Quality Assessment Scale. The meta-analysis was carried out by calculating the random effects model and pooled mean proportions with 95% confidence intervals (CIs). Results A total of 53 studies were considered worthy, but 39 were excluded due to unusable data formats. The meta-analysis was carried out by calculating the random effects model and pooled mean proportions with 95% confidence intervals (CIs). Patients with Apert syndrome were noted as having AS, and Crouzon syndrome was noted as having CS; different studies were included in the systematic review. A total of seven studies reported outcomes. The I2 index provides a better way of assessing effect size heterogeneity. Forest plots were generated to visualize the heterogeneity of the individual outcomes. Subgroup analyses were performed for each outcome to assess the potential differences in effect sizes. The effect size and heterogeneity of the dental arch were greater in the CS group (I2: 58%, 95% CI=0.01, 0.29; P=0.12) than in the AS group (I2: 52%, 95% CI=0.01, 0.27; P=0.15). Effect size and heterogeneity of the maxilla of AS patients (I2: 91%, 95% CI 0.09; 0.47, P<0.01) and CS patients (I2: 94%, 95% CI 0.07; 0.64, P<0.01). We observed significant heterogeneity in AS and CS patients. Conclusion This review demonstrated the large variation in cephalometric measurements between CS and AS patients. The CS patient had a smaller skull and mandible volume than the AS patient. The CS procedure did not change the maxillary intercanine width or intermolar width, but the maxillary intercanine width increased in patients with AS. With the growth period of the children, the maxillary and mandibular intercanine indices increased in the CS, whereas no change in mandibular or maxillary intercanine indices during the growth period was predicted in the AS. The anterior maxillary region is more affected in AS patients than in HCs but less affected in CS patients. ASs had an anterior crossbite (p<0.001), and CSs had an edge-to-edge bite (p<0.011). CSs tend to have short and flat cranial bases, smaller orbital volumes, and cleft palates.

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Section: Introductionmentioning

confidence: 99%

FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysis

Dhiman,

Panigrahi,

Padhi

et al. 2024

Preprint

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show abstract

“…Isolated midline craniosynotsosis is not typically felt to be "genetic". Di Rocco et al provide evidence of an association with a number of genes and this phenotype, especially SMAD6 [20]. DCAF13 bi-allelic variants were identified as a novel cause of a neuromuscular disorder [21].…”

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confidence: 99%

2023 in the European Journal of Human Genetics

McNeill

2024

Eur J Hum Genet

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Technical evolution of pediatric neurosurgery: craniosynostosis from 1972 to 2023 and beyond

Rocco

Proctor

2023

Childs Nerv Syst

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Clinical interest of molecular study in cases of isolated midline craniosynostosis

Cited by 9 publications

References 39 publications

FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysis

FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysis

2023 in the European Journal of Human Genetics

Technical evolution of pediatric neurosurgery: craniosynostosis from 1972 to 2023 and beyond

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