Apert syndrome: the Paris and Rotterdam philosophy

Driessen, Caroline; vanVeelen-Vincent, M.L.C.; Joosten, Koen; Versnel, Sarah L.; vanNieuwenhoven, C.A.; Wolvius, Eppo B.; Bredero-Boelhouwer, Hansje; Arnaud, Éric; Mathijssen, Irene M J

doi:10.1080/21678707.2017.1335195

Cited by 6 publications

(11 citation statements)

References 52 publications

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“…There are several reasons for the high occurrence of papilledema in syndromic craniosynostosis. Papilledema is caused by high ICP as a result of premature closure of one or more sutures resulting in abnormal skull growth, ventriculomegaly, venous out-flow obstruction and obstructive sleep apnea [49]. Papilledema, can lead to visual loss if untreated [26,30].…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis

Rostamzad

Arslan

Mathijssen

et al. 2022

JCM

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Background: The aim of this study was to describe the ophthalmic abnormalities and their prevalence in craniosynostosis prior to craniofacial surgery. Methods: A systematic search was conducted on Medline OVID, Embase, Cochrane, Google Scholar, Web of Science Core Collection. Inclusion criteria were English papers, children aged <18 years with non-syndromic and syndromic craniosynostosis, case reports, case series, and case-control studies. A system of domains was established consisting of an anatomic and functional ophthalmic domain. A meta-analysis of single proportions was carried out using random effects model and pooled mean proportions with 95% confidence intervals (CI) were calculated. Results: Thirty-two papers analyzing 2027 patients were included. Strabismus was the most common anomaly in non-syndromic craniosynostosis: Horizontal strabismus was highest prevalent in unicoronal craniosynostosis (UCS) 19% (95% CI 9–32), followed by vertical strabismus 17% (95% CI 5–33). In syndromic craniosynostosis, horizontal strabismus was most prevalent in Crouzon syndrome 52% (95 CI 26–76), followed by Apert syndrome 50% (95% CI 42–58). Vertical strabismus was most prevalent in Saethre-Chotzen 60% followed by Muenke’s syndrome 36%. Furthermore, astigmatism was the second most reported outcome in non-syndromic craniosynostosis and highest prevalent in UCS 35% (95% CI 21–51). In syndromic craniosynostosis, astigmatism was most frequently seen in Crouzon syndrome 43% (95% CI 22–65), followed by Apert syndrome 34% (95% CI 14–58). Moreover, in syndromic craniosynostosis, 5–40% had a decrease in visual acuity (VA) ≤ 0.3 LogMAR in the better eye and 11–65% had a VA ≤ 0.3 LogMAR in at least one eye. Discussion: This review demonstrates the high prevalence of ocular anomalies in non-syndromic and syndromic craniosynostosis. A multidisciplinary and systematic approach is needed for the screening and optimal treatment of these conditions in a timely manner.

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Section: Discussionmentioning

confidence: 99%

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis

Rostamzad

Arslan

Mathijssen

et al. 2022

JCM

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“…indroma Apert merupakan suatu kelainan kongenital yang jarang terjadi yang meliputi kelainan pada kepala, wajah, tangan dan kaki atau disebut acrocephalosyndactyly tipe I. 1,2 Kelainan ini merupakan kelainan genetik dominan autosomal dengan penampakan klinis kraniosinostosis, hypoplasia midface, dan sindaktili simetris pada pedis dan manus. Sindroma ini pertama kali dijelaskan oleh dr. Eugene Apert yang berasal dari Prancis, sehingga nama beliau digunakan untuk kelainan ini yaitu sindroma Apert.…”

Section: Pendahuluanunclassified

Pasien Sindroma Apert Yang Dilakukan Operasi Fronto Orbital Advancement Setelah Occipital Expansion

Putria

Prasetyo

Febrina

2022

JRE

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Sindroma Apert atau acrocephalosyndactyly tipe I merupakan kelainan kongenital yang ditandai dengan adanya kraniosinositosis, exorbitism, midface hypoplasia dan sindaktili simetris pada tangan dan kaki, hal ini disebabkan oleh mutasi genetik dari FGFR-2, S252W dan P253R. Tatalaksana kraniosinostosis bertujuan untuk memperbaiki fungsi serta estetik dari pasien dengan tindakan awal adalah dilakukan dekompresi kalvaria dengan intervensi pembedahan yaitu occipital expansion pada usia 6 bulan dan dilanjutkan dengan fronto-orbital-advancement (FOA). Pada kasus ini dilakukan tatalaksana occipital expansion dan dilanjutkan dengan FOA dengan hasil yang cukup memuaskan.

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“…1). 1,10,15,16 The normal anatomic nail plate is bordered by the eponychium, hyponychium, and perionychium. Paronychia is one of the most common hand infections and involves the proximal and lateral nail folds.…”

Section: Anatomymentioning

confidence: 99%

Management of Paronychia in Patients With Apert Syndrome

Kim

Block

Zhu

et al. 2020

Techniques in Hand &Amp; Upper Extremity Surgery

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Apert syndrome is a complex congenital syndrome that includes bicoronal craniosynostosis, craniofacial dysmorphologies, cleft palate, hearing loss, spina bifida occulta, cardiac anomalies, and affects the upper and lower extremities-producing complex syndactyly in these patients. Management of the hands yields several challenges and mandates close follow-up to balance repair of complex polysyndactyly with other pressing interventions, such as posterior cranial vault distraction and surgical management of the airway. Our goals of therapy for the hands are to preserve 10 digits, provide sufficient soft tissue coverage, optimize hand function, and minimize the number of surgical interventions. Ideally, surgical management of the hand differences occurs between the ages of 9 months and 2 years, to optimize neurocognitive development. In complex syndactyly observed in patients with Apert syndrome, there are broad, conjoined nail plates that overlie the fused digits, and paronychia occurs frequently. Suppurative infections can delay definitive surgical intervention for the patient's complex syndactyly, and resolution of paronychia is critical. This study aims to propose an effective and safe technique to manage paronychia when it occurs in patients with Apert complex syndactyly and to mitigate the length of delay to definitive polysyndactyly reconstruction. In the context of these patients' need for multiple surgical interventions within the first few years of life, this strategy for preventing or mitigating paronychia can play an important role in streamlining their complex surgical management while avoiding multiple cancellations.

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Apert syndrome: the Paris and Rotterdam philosophy

Cited by 6 publications

References 52 publications

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis

Prevalence of Ocular Anomalies in Craniosynostosis: A Systematic Review and Meta-Analysis

Pasien Sindroma Apert Yang Dilakukan Operasi Fronto Orbital Advancement Setelah Occipital Expansion

Management of Paronychia in Patients With Apert Syndrome

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