Upper airway endoscopy to optimize obstructive sleep apnea treatment in Apert and Crouzon syndromes

Doerga, Priya N.; Spruijt, Bart; Mathijssen, Irene M.J.; Wolvius, Eppo B.; Joosten, Koen; Schroeff, Marc P. van der

doi:10.1016/j.jcms.2015.11.004

Cited by 38 publications

(31 citation statements)

References 21 publications

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“…Sleeprelated breathing disorders are a common symptom in children with craniosynostosis syndromes as upper airways may be narrowed by midface hypoplasia [Hein et al, 2011;Driessen et al, 2013]. They are at an increased risk for hyposomnia, sleep structure disturbance, obstructive sleep apnea, and memory deficits [Doerga et al, 2016]. Midface hypoplasia is widely distributed in our family.…”

Section: Discussionmentioning

confidence: 99%

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Graul‐Neumann¹,

Klopocki

Adolphs³

et al. 2017

Mol Syndromol

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Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. No clear genotype/phenotype correlation has been identified yet. Here, we describe a second family with a mild phenotype in which the FGFR2 mutation c.943G>T leading to the amino acid substitution p.Ala315Ser was detected. Five affected family members showed craniofacial dysostosis without overt craniosynostosis. They all had midface hypoplasia. Crouzonoid appearance with mild protrusion of bulbi was only apparent in our index patient as well as obstructive sleep apnea episodes leading to reduced oxygen saturation; therefore, surgical intervention was suggested. One other affected family member additionally had iris coloboma.

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Section: Discussionmentioning

confidence: 99%

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Graul‐Neumann¹,

Klopocki

Adolphs³

et al. 2017

Mol Syndromol

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“…It is likely that venous hypertension plays an important role in the development of ICHT [28,29]. (4) There is a high prevalence of 70% of OSA in children with Apert syndrome, which is the result of a multilevel upper airway obstruction [30,31]. The spectrum runs from upper airway resistance, without real apneas up to severe obstructed breathing.…”

Section: Article Highlightsmentioning

confidence: 99%

“…Snoring, persistent upper airway resistance, and mild OSA are not associated to ICHT, but may require treatment if patients are symptomatic, such as tiredness during the day [35]. Central sleep apnea is commonly found in the sleep studies during the first year of life, but appears self-limiting with advancing age [30].…”

Section: Article Highlightsmentioning

confidence: 99%

“…Treatment of OSA in patients with Apert syndrome should be adapted to the outcome of a sleep study and the level of obstruction which is analyzed using upper airway endoscopy [30]. It may vary from tracheostomy, treatment of choanal atresia, nasal corticosteroids, adenotonsillectomy, noninvasive ventilation, palatal split, and midface advancement [21,31].…”

Section: Osamentioning

confidence: 99%

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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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“…Its proper treatment is operation within first year of Birth10 to stop early fusion of the coronal suture otherwise they get increased intracranial pressure. They have difficulty in breathing causing sleep Apnea and mouth breathing 11. They have usually middle ear infection resulting into some degree of deafness and can also have some degree of visual loss 8.…”

Section: Introductionmentioning

confidence: 99%

Apert Syndrome: Report of a rare congenital malformation

Rathore¹,

Rathore

2017

Pak J Med Sci

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A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work.

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Upper airway endoscopy to optimize obstructive sleep apnea treatment in Apert and Crouzon syndromes

Cited by 38 publications

References 21 publications

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family

Apert syndrome: the Paris and Rotterdam philosophy

Apert Syndrome: Report of a rare congenital malformation

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