Cranial Fossa Volume and Morphology Development in Apert Syndrome

Lu, Xiaona; Forte, Antonio J.; Wilson, Alexander T.; Steinbacher, Derek M.; Alperovich, Michael; Alonso, Nivaldo; Persing, John A.

doi:10.1097/prs.0000000000006679

Cited by 12 publications

(2 citation statements)

References 42 publications

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“…This is in contrast to the anterior protrusion of the posterior orbital wall (i.e., the greater wings of sphenoid and middle cranial fossae) seen in Apert syndrome. 16 The limited orbital cavity volume in both Pfeiffer and Crouzon syndromes is more attributable to a wider medial orbital wall (i.e., the mediolateral expanded ethmoid), 8,9 resulting in a widened distance between the bilateral orbital cavities. Hypoplasia of sphenoid bone in Pfeiffer syndrome is likely central to the inherent genetic influence of a different point mutation on the FGFR2 gene; since all Apert, Pfeiffer and Crouzon syndromes are FGFR2 - related, Pfeiffer syndrome is the only one where we encounter persistent significant hypoplasia of the sphenoid even after tooth eruption.…”

Section: Discussionmentioning

confidence: 99%

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome

Lu¹,

Forte²,

Allam³

et al. 2022

Plastic &Amp; Reconstructive Surgery

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Background: Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear. Methods: Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared. Craniometric and volumetric analyses related to the orbital and periorbital anatomy were performed using Materialise (Leuven, Belgium) software. Results: Overall, orbital cavity volume of Pfeiffer patients is reduced by 28 percent (p < 0.001), compared to normal, starting before 3 months of age (p = 0.004). Globe volume was diminished by 10 percent (p = 0.041) before 3 months of age, yet tended to catch up thereafter. However, the retrobulbar soft-tissue volume remained smaller beyond 1 year of age (17 percent, p = 0.003). Globe volume projection beyond the bony orbit increased in all observed ages (82 percent, p < 0.001). The volumes of sphenoid bone, maxilla, and mandible proportionately were restricted by 24 to 25 percent (p = 0.003 to 0.035) before 3 months of age. The volume of maxilla and mandible gradually approximate normal; however, the sphenoid bone volume in Pfeiffer patients remains less than normal (p = 0.002) into childhood. The anteroposterior length of both the zygoma and the maxilla was reduced by 14 percent (p < 0.001). Anterior positioning of the zygoma is less by 23 percent (p < 0.001) in Pfeiffer patients overall, with anterior positioning of maxilla reduced similarly by 23 percent (p < 0.001). Conclusions: Pfeiffer syndrome patients develop decreased retrobulbar soft-tissue and globe volume, along with a restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma). CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

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Section: Discussionmentioning

confidence: 99%

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome

Lu¹,

Forte²,

Allam³

et al. 2022

Plastic &Amp; Reconstructive Surgery

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“…The main manifestation of Apert syndrome (AS) and Crouzon syndrome (CS) is craniosynostosis. Craniosynostosis is a condition of early fusion of the skull bones (Bhoj & Zackai, 2021;Lu et al, 2020). Early sutural fusion impairs skull growth and gives rise to craniofacial dysmorphism in the AS and CS (Das & Munshi, 2018;Lu et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysis

Dhiman,

Panigrahi,

Padhi

et al. 2024

Preprint

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Background This study aimed to compare the prevalence of craniofacial dysmorphisms, such as maxillary, mandibular, and dental arch dimensions, and cranial suture fusion in Apert and Crouzon syndrome patients from publicly available scientific information and to provide insights to improve the findings of further studies. Over a large-scale interval from January 2000 to January 2023, a comprehensive search was performed on different database platforms: PubMed, Google Scholar, Cochrane, Web of Science, and the Wiley online library. The preferred reporting item for Systematic Review and Meta-Analyses (PRISMA) guidelines were followed to conduct this systematic review. The protocol was submitted to the International Prospective Register of Systematic Reviews (CRC42023395454; https://www.crd.york.ac.uk/prospero/record_email.php) on 11 February 2023. We collected the data from different databases and ranked the publications based on their adherence to the Newcastle‒Ottawa Quality Assessment Scale. The meta-analysis was carried out by calculating the random effects model and pooled mean proportions with 95% confidence intervals (CIs). Results A total of 53 studies were considered worthy, but 39 were excluded due to unusable data formats. The meta-analysis was carried out by calculating the random effects model and pooled mean proportions with 95% confidence intervals (CIs). Patients with Apert syndrome were noted as having AS, and Crouzon syndrome was noted as having CS; different studies were included in the systematic review. A total of seven studies reported outcomes. The I2 index provides a better way of assessing effect size heterogeneity. Forest plots were generated to visualize the heterogeneity of the individual outcomes. Subgroup analyses were performed for each outcome to assess the potential differences in effect sizes. The effect size and heterogeneity of the dental arch were greater in the CS group (I2: 58%, 95% CI=0.01, 0.29; P=0.12) than in the AS group (I2: 52%, 95% CI=0.01, 0.27; P=0.15). Effect size and heterogeneity of the maxilla of AS patients (I2: 91%, 95% CI 0.09; 0.47, P<0.01) and CS patients (I2: 94%, 95% CI 0.07; 0.64, P<0.01). We observed significant heterogeneity in AS and CS patients. Conclusion This review demonstrated the large variation in cephalometric measurements between CS and AS patients. The CS patient had a smaller skull and mandible volume than the AS patient. The CS procedure did not change the maxillary intercanine width or intermolar width, but the maxillary intercanine width increased in patients with AS. With the growth period of the children, the maxillary and mandibular intercanine indices increased in the CS, whereas no change in mandibular or maxillary intercanine indices during the growth period was predicted in the AS. The anterior maxillary region is more affected in AS patients than in HCs but less affected in CS patients. ASs had an anterior crossbite (p<0.001), and CSs had an edge-to-edge bite (p<0.011). CSs tend to have short and flat cranial bases, smaller orbital volumes, and cleft palates.

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Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome

Forte

Allam

et al. 2021

British Journal of Oral and Maxillofacial Surgery

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Cranial Fossa Volume and Morphology Development in Apert Syndrome

Cited by 12 publications

References 42 publications

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome

FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysis

Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome

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