Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

Kumari, Kajol; Saleh, Inam; Taslim, Sanzida; Ahmad, Sana; Hussain, Iqbal; Munir, Zainab; Javed, Tamleel; Virk, Muhammad Furqan Ismat; Javed, Saleha; Bisharat, Pakeezah; Ur Rehman, Ubaid

doi:10.7759/cureus.47281

Cited by 2 publications

(3 citation statements)

References 48 publications

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“…У 10% хворих з AS виявляються ВВС. Найчастішими ВВС при AS є ДМШП, ДМПП, ВАП [16]. Втрата слуху виявляється у 80% випадків, здебільшого кондуктивна.…”

Section: синдром апертаunclassified

“…У 40% випадків спостерігається обструкція дихальних шляхів за рахунок звуження носових хоан, аномалії трахеї. У 9,6% виявляються дефекти сечостатевої системи (гідронефроз, крипторхізм) [16,39].…”

Section: синдром апертаunclassified

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Children with gene defects are a risk group for the development of abnormalities of the cardiovascular system

Selska,

Vasylkova

2024

UJPP

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To date, the prevalence of congenital heart defects (CHD), the level of disability and mortality from them in children remains an unsolved problem in pediatrics, despite the improvement of preventive measures, diagnostics and treatment in pediatric cardiology. There are a number of genetic diseases that are manifested by congenital anomalies of the cardiovascular system. Purpose - to analyze the abnormalities of the cardiovascular system in children with gene defects for the early diagnosis of genetic diseases in patients and the detection of congenital pathology of the heart and blood vessels in them, followed by their treatment tactics. This article describes a number of genetic syndromes in children, in which congenital anomalies of the heart and blood vessels are the most common. The characteristics of each of the syndromes include its definition, clinical symptoms with an emphasis on the external signs of the patient, the study of abnormalities of the cardiovascular system in this genetic disease, the examination plan for the patient and genetic testing used for the accuracy of the diagnosis. Conclusions. Based on the results of our analysis, we can conclude that there is a certain regularity between genetic diseases in children and the development of CHD in them, according to which certain CHD are formed with certain gene defects. Knowledge of the main clinical symptoms, especially external dysmorphism, in such patients helps in faster diagnosis and treatment of a genetic disease, in particular CHD. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

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Section: синдром апертаunclassified

Children with gene defects are a risk group for the development of abnormalities of the cardiovascular system

Selska,

Vasylkova

2024

UJPP

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“…In addition to craniosynostosis, craniofacial dysmorphism, visual impairments, cleft palate, and hearing loss are found in AS. Bilateral coronal synostosis is most frequently found in the AS (Alsaeed et al, 2023;Kumari et al, 2023;Massimi et al, 2019). Other metopic, lambdoid, and sagittal suture fusions are also rarely found in AS patients.…”

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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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Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

Cited by 2 publications

References 48 publications

Children with gene defects are a risk group for the development of abnormalities of the cardiovascular system

Children with gene defects are a risk group for the development of abnormalities of the cardiovascular system

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

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