Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

Lu, Xiaona; Sawh-Martinez, Rajendra; Forte, Antonio J.; Cabrejo, Raysa; Wilson, Alexander T.; Steinbacher, Derek M.; Alperovich, Michael; Alonso, Nivaldo; Persing, John A.

doi:10.1097/gox.0000000000002158

Cited by 22 publications

(19 citation statements)

References 38 publications

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“…11 We have noted differences in segmented airway volumes, and respective correlations with the prematurely fused skull vault suture synostosis in 3 Apert syndrome subgroups. 7,9 However, different from previous reports, in this study, the 3 subtypes of type III perpendicular combinations of vault suture synostoses, were assessed as a whole, rather than individually. This is because our recent genotyping tests show that the type III Apert syndrome patients, all carried the same mutation (FGFR2c.755C > G p.Ser252Trp).…”

Section: Discussionmentioning

confidence: 91%

“…Unoperated Apert syndrome patients, and ageand gender-matched controls without confounding disease were included. All the CT scans are divided into 3 types based on an established classification system: 7,9 Type I. Bilateral coronal synostosis; type II.…”

Section: Methodsmentioning

confidence: 99%

“…6 It has been shown that, in syndromic craniosynostosis patients, the morphological development of craniofacial structures are influenced by different skull vault suture synostosis. 7,8 In this study we aim to directly analyze the relationship between the airway volume FACE 1 (2) changes and associated prematurely fused cranial vault sutures, in a much larger patient and control cohort. We investigate and compare cephalometric indices of all forms, so as to provide individualized, and possibly more effective, surgical planning for each group.…”

Section: Introductionmentioning

confidence: 99%

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Airway Development Relevant to Cranial Vault Suture Synostosis Subtype in Apert Syndrome

Forte

Park

et al. 2020

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Introduction: Based on an established classification system of Apert syndrome subtypes, we aim to directly analyze the correlation between segmented airway volume changes and different skull suture synostosis, so as to provide individualized surgical planning for each subgroup of Apert patients. Methods: CT scans of 44 unoperated Apert syndrome and 53 controls were included and subgrouped as: type I. Bilateral coronal synostosis; type II. Pansynostosis; type III. Perpendicular combinations of cranial vault synostosis. CT scans were measured using Mimics and 3-matics software. Results: Type I developed a 41% ( P = .116) reduction in the nasal cavity, yet a normal sized pharyngeal airway. The reduced nasal airway was linked to the decreased cross sectional area ( r = 0.598, P = .001), vertical dimension ( r = 0.719, P < .001), and narrower width ( r = 0.727, P < .001). Type II developed proportionally reduced nasal airway and pharyngeal airway volumes (both 47%, P = .113 and P = .041), along with the proportionally restricted cross sectional areas at choana and condylion levels by 62 to 65%. This reduction is related to the cranial base length ( r = 0.712, P = .048), and also cranial base angulation ( r = 0.780, P = .023). Nasal and pharyngeal airway developed normal volume in type III. However, the cross sectional areas at the gonion level diminished by 74% ( P < .001). Conclusion: Airway development is influenced by subtype of Apert suture synostosis. Type II pansynostosis Apert patients developed synchronous reduced nasal and pharyngeal airways, which is correlated with the slightly flattened cranial base. Type I bicoronal patients have a smaller nasal cavity, but normally sized hypopharynx. Yet, type III patients developed normal nasopharyngeal airway volume overall.

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Section: Discussionmentioning

confidence: 91%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Airway Development Relevant to Cranial Vault Suture Synostosis Subtype in Apert Syndrome

Forte

Park

et al. 2020

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“…10,11 Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. 10,11,12 Bilateral coronal synostosis is the most common type found in the patient with Apert Syndrome. Apert cranial base angulation is inconsistent as well.…”

Section: Discussionmentioning

confidence: 99%

“…11,12 However, the skull deformity in Apert's syndrome is not always typical or characteristic, and it is not always in the same type. 12,13 It may either brachycephalic-too wide (premature closure of the coronal and or lambdoid sutures), scaphocephalic-vertically elongated (premature closure of sagittal suture), turricephalic-tower shaped (premature closure of all sutures), plagiocephalic-asymmetrical (asymmetrical premature closure of all suture in one half of the head). 12,13 In our cases, all have brachycephalic skull shapes (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Apert Syndrome: Case Series and Review of The Literature

2021

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Summary: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristic from the phenotypic manifestations only. We present cases of 6-years-old male, 2-years-old female, and 3-years-old female, respectively, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnostic of Apert Syndrome.

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Does different cranial suture synostosis influence orbit volume and morphology in Apert syndrome?

Forte

Alperovich

et al. 2022

International Journal of Oral and Maxillofacial Surgery

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Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

Abstract: Supplemental Digital Content is available in the text.

Cited by 22 publications

References 38 publications

Airway Development Relevant to Cranial Vault Suture Synostosis Subtype in Apert Syndrome

Airway Development Relevant to Cranial Vault Suture Synostosis Subtype in Apert Syndrome

Apert Syndrome: Case Series and Review of The Literature

Does different cranial suture synostosis influence orbit volume and morphology in Apert syndrome?

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