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Apert Syndrome - Crossref

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Last Updated: 10 September 2022

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Endoscopic strip craniectomy with orthotic helmeting for safe improvement of head growth in children with Apert syndrome

OBJECTIVE Bilateral coronal craniosynostosis in Apert syndrome is commonly treated with open cranial vault refining procedures such as fronto-orbital advancement. This research investigates whether endoscopic strip craniectomy is superior to FOA in correcting head growth in patients with Apert syndrome. METHODS The authors conducted a retrospective review of children with Apert syndrome for a 23-year period. Patients treated with ESC versus FOA were compared for patients treated with ESC versus FOA by using normal growth curves, with standardized growth curves used. Both patients in both groups had head circumferences that were similar to or higher than the 85th percentile at the last follow-up, according to normative growth curves. CONCLUSIONS Children with Apert syndrome and bilateral coronal craniosynostosis treated with ESC have an early normalization of head growth and cephalic index that is not inferior to those treated with FOA.

Source link: https://doi.org/10.3171/2022.2.peds21340


Spatial Dysmorphology of the Foot in Apert Syndrome: Three-dimensional Computed Tomography

Computer assisted medical imaging was used to map the foot in three patients with Apert syndrome and to link dysmorphology of the foot with ambulation and footwear. The reformatted images were reviewed by a bone and joint radiologist to detect abnormalities of bone shape, size, and orientation, of joint morphology, and of the foot as a whole. In Apert patients, Prophylactic foot surgery may be indicated to facilitate shoe fitting.

Source link: https://doi.org/10.1597/1545-1569_1995_032_0255_sdotfi_2.3.co_2


Bilateral endoscopic craniectomies in the treatment of an infant with Apert syndrome

Patients with Apert syndrome also have ocular hypoplasia as a result of bilateral coronal craniosynostosis and midfacial hypoplasia. The authors explore the case of a patient who was hospitalized at 8 weeks of age with endoscope-assisted bilateral coronal craniectomies followed by therapy with a custom-made postoperative cranial orthosis.

Source link: https://doi.org/10.3171/2012.7.peds11281


Cleft Palate in Apert Syndrome

In a subset of Apert syndrome patients, Cleft palate occurs. We review the clinical characteristics of the palate in Apert syndrome cases, mouse models' palatal phenotypes, and potential signaling pathways involved in palatal defects in Apert syndrome. To find clues into palatal abnormalities in Apert syndrome, we reviewed the pathogenic mechanisms of palatal defects in Apert syndrome. The soft palate cleft in Apert syndrome patients is more common than that of the hard palate. During palatogenesis, mutations in FGFR2 causing Apert syndrome may be able to change a signaling network involved in epithelial-u2013mesenchymal interactions during palatogenesis.

Source link: https://doi.org/10.3390/jdb10030033


Craniosynostosis and Apert Syndrome

Apert syndrome is a multisystem disease of the craniosynostosis spectrum that results from a fibroblast growth factor receptor disorder. Children often have a contaminated airway and a high incidence of sleep disorders, which is secondary to midface hypoplasia. A combination of surgical techniques and blood conservation may be helpful in addition to tips from point-of-care testing.

Source link: https://doi.org/10.1093/med/9780190685157.003.0021


A case report of Apert syndrome with review of literatures

It is mainly caused by a new mutation in the fibroblast growth factor receptor-2 gene, which is primarily due to a new mutation. Isotretinoin 20 mg/day was initially used for nodulocystic acne, but there was noticeable improvement two months later. The symptom of Apert syndrome is severe acne in early puberty linked to synostosis, and we should be aware of these syndromic disorders in dermatology clinic.

Source link: https://doi.org/10.7241/ourd.2022e.38


Congenital dislocation of the knee with bilateral absence of the fibula and suspected Apert syndrome – case report

The aim of this research is to determine treatment outcomes obtained in the patient with congenital dislocation of the right knee and other bodily abnormalities of the motor system, as well as the detection of Apert syndrome. Patients with congenital knee dislocation were treated surgically in two medical centers between 2005 and 2019. The patient first reported to the researchers of this article at the age of nine months. According to Leveuf and club feet, complete luxation of the right knee was grade III, with no fibula bones in the lower legs. Following the Curtis and Fisher technique, Stage one involved a reposition of the congenital right knee dislocation. Foot surgery u2013 began on the left and then the right, followed by the left. To summarize, patients with congenital knee dislocation make up a highly diverse population that necessitates multidisciplinary care and, in the case of multistage therapy, the patient requires both multidisciplinary care and often also multistage care.

Source link: https://doi.org/10.31139/chnriop.2022.87.1.7


Analysis of Intracranial Volume in Apert Syndrome Genotypes

In almost all of the cases where the mutation has been found, it is in one of two adjacent sites of the gene, either position 252 or position 253. Method: Three-dimensional CT scans of pre-operative Apert syndrome patients with no genotype had the intracranial volume measured using the Cavalieri estimator with correction for partial voluming effects. There were no apparent differences in intracranial volumes between the two genotypes in the 252 and 253 genotypes.

Source link: https://doi.org/10.1159/000081933


Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

Prenatal diagnosis may be difficult in the absence of a family history, particularly because of sonography alone. In situations in which sonography alone is not conclusive, this emphasizes the effectiveness of a sequential diagnostic approach combining 3DTS and molecular biology.

Source link: https://doi.org/10.1159/000053872


Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis

At nucleotide 758, the genetic analysis revealed a p. P253R mutation in fibroblast growth factor receptor type 2 resulting in a transversion C > G. Using ultrasound, fetal magnetic resonance imaging, and mutation analysis, our study reveals the sensitivity of Apert syndrome with cloverleaf skull in newborn patients with severe craniosynostosis patients.

Source link: https://doi.org/10.1159/000262447

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions