First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes

Spruijt, Bart; Rijken, Bianca Francisca Maria; Ottelander, Bianca K. den; Joosten, Koen; Lequin, Maarten H.; Loudon, Sjoukje E.; Veelen, Marie-Lise C. van; Mathijssen, Irene M J

doi:10.1097/prs.0000000000001894

Cited by 39 publications

(36 citation statements)

References 30 publications

(31 reference statements)

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“…Additionally, early intervention due to hydrocephalus, cranio-cerebral disproportion, and raised ICP may require PVE or ventriculoperitoneal shunting ( Fig. 6 ) [Gault et al, 1992;Derderian et al, 2015;Khonsari et al, 2016;Spruijt et al, 2016]. Rarely in the very young, this vault expansion accompanies a nasopharyngeal airway for OSA, ventriculoperitoneal shunt for hydrocephalus, protection tarsorrhaphy for globe subluxation, and a nasogastric tube for poor feeding and weight gain ( Fig.…”

Section: Surgical Managementmentioning

confidence: 99%

“…The greatest severity is associated with the mutations affecting FGFR2 , requiring close surveillance and timely intervention to optimise airway, visual potential, and development. Our unit practises intervention in reaction to signs and investigations rather than a prescribed procedural protocol [Spruijt et al, 2016]. Figure 1 details the approach of the unit in caring for these syndromic patients and responding to results of their regular surveillance.…”

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confidence: 99%

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Syndromic Craniosynostosis: Complexities of Clinical Care

et al. 2019

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Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the premature closure of their cranial sutures and associated facial and extra-cranial features. Their clinical complexity demands comprehensive management by an extensive multidisciplinary team. This review aims to marry genotypic and phenotypic knowledge with clinical presentation and management of the craniofacial syndromes presenting most frequently to the craniofacial unit at Great Ormond Street Hospital for Children NHS Foundation Trust.

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Section: Surgical Managementmentioning

confidence: 99%

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confidence: 99%

Syndromic Craniosynostosis: Complexities of Clinical Care

et al. 2019

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“…The increase in volume is higher after a posterior vault expansion compared to a fronto-orbital advancement [48], and therefore the preferred primary approach, either with the use of springs or distractors. This also leaves the anterior part of the skull untouched for future anterior cranial or facial surgery.…”

Section: Craniofacial Surgerymentioning

confidence: 99%

“…Traditionally, the preferred initial cranioplasty was a fronto-orbital advancement. Since 2005, we prefer occipital expansion and ever since we perform an occipital expansion first, the incidence of ICHT and Chiari I malformation during follow up has decreased [48,52].…”

Section: Expert Opinionmentioning

confidence: 99%

Apert syndrome: the Paris and Rotterdam philosophy

Driessen

vanVeelen-Vincent

Joosten

et al. 2017

Expert Opinion on Orphan Drugs

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Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. This review includes background information about the syndrome and several aspects of the treatment. Areas covered: The cause of Apert syndrome is found in unique mutations in the Fibroblast Growth Factors Receptor (FGFR) 2 gene in 99%. It results in cranial suture fusion, craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet. Patients with Apert syndrome are at risk for mental retardation, mobility impairment and intracranial hypertension (ICHT). This is the result of a complex interaction between (1) abnormal skull growth, (2) ventriculomegaly, (3) venous outflow obstruction and (4) obstructive sleep apnea (OSA). Mental retardation is mainly determined by the FGFR2 mutation and treatment is directed at protecting the intrinsic potential of neurocognition. Expert Opinion: To prevent ICHT, we prefer an occipital expansion in the first year of life. Screening on ICHT and its underlying causes is necessary at least until the age of ten by means of skull circumference measurements, fundoscopy, optical coherence tomography, MRI and polysomnography. Multicentre studies on long-term outcome are required to validate the rationale of different clinical protocols. ARTICLE HISTORY

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“…It is a rare disorder with an incidence of 1.6 out of every 100,000 people. Crouzon's patients typically require more orofacial reconstruction than other syndromic patients, along with intense neurosurgical intervention due to the high probability of hydrocephalus secondary to craniosynostosis and other skull base malformations [5][6][7]. www.ijcasereportsandimages.com Shah et al 34…”

Section: Introductionmentioning

confidence: 99%