Distinguishing craniomorphometric characteristics and severity in metopic synostosis patients

Chandler, Ludmila; Park, K.E.; Allam, Omar; Mozaffari, Mohammad Ali; Khetpal, Sumun; Smetona, John; Pourtaheri, Navid; Lu, Xiaona; Persing, John A.; Alperovich, Michael

doi:10.1016/j.ijom.2020.11.022

Cited by 10 publications

(17 citation statements)

References 25 publications

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“…Although there is currently no standard or widely accepted craniometric measurement for the diagnosis of metopic craniosynostoses, several have been proposed in the contemporary literature. [3,5,6,16] Many of our patient's measured craniofacial parameters align more closely with reported controls rather than those of patients with metopic craniosynostosis, which is consistent with the very mild, even subtle, features of metopic craniosynostosis she displayed. We certainly acknowledge that her case did not demonstrate a classic phenotypical appearance for metopic craniosynostosis.…”

Section: Discussionsupporting

confidence: 83%

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Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Recker

Kronenwetter

Reynolds

et al. 2022

Surgical Neurology International

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Background: Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissues caused by mutations in the FBN1 gene which can result in widespread systemic involvement. Loeys-Dietz syndrome (LDS) is a related autosomal dominant disorder of connective tissue with widespread systemic involvement which has phenotypic overlap with MFS. LDS is caused by heterozygous pathogenic variants in six different genes, the most common of which involve transforming growth factor beta-receptor 1 or 2. While LDS is commonly associated with craniofacial manifestations, MFS is not typically characterized by craniosynostosis. Case Description: We present a 7-month-old female patient with MFS and metopic craniosynostosis with an unusual clinical presentation who underwent cranial vault reconstruction with fronto-orbital advancement and anterior cranial vault remodeling. Her course was complicated by impaired wound healing after surgery, requiring return to the operating room. Conclusion: Phenotypic overlap between genetic disorders can confound clinical diagnosis as illustrated in this case. Genetic testing can be highly valuable in the diagnosis of clinically variable disorders. Patients with MFS who undergo cranial surgery may be at increased risk for wound healing complications.

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Section: Discussionsupporting

confidence: 83%

“…Metopic indices were taken from the CT and found to be within normal range. [3,5,6,16] e midfronto-zygomatic diameter was 70.4 mm, the eurioneurion diameter was 115, resulting in a metopic index of 0.61. In addition, the endocranial bifrontal angle was 139 degrees.…”

Section: Case Descriptionmentioning

confidence: 99%

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Recker

Kronenwetter

Reynolds

et al. 2022

Surgical Neurology International

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“…Posnick et al, first quantified various measurements that significantly differed in metopic synostosis on craniomorphometric analysis including bitemporal width, interorbital distance, and medial wall protrusion. (Posnick et al, 1994) Subsequent studies proposed various severity metrics based on manual measurements of CT imaging, including the EBA proposed by Beckett et al, (Beckett et al, 2012) adjusted EBA by Naran et al, (Naran et al, 2017) metopic index by Wang et al, (Wang et al, 2016) orbital rim angle by Ezaldein et al, (Ezaldein et al, 2014) intercranial volume by Cronin et al, (Cronin et al, 2020) central angle by Havlik et al, (Havlik et al, 1999) and frontal angle by Chandler et al (Chandler et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

“…Measurable metopic severity indices included: endocranial bifrontal angle (EBA), adjusted EBA, frontal angle, posterior angle of the anterior cranial fossa, metopic index, horizontal cone angle, temporal depression angle, orbital rim angle, foramen ovale midline distance, and the bitemporal/biparietal distance ratio and were previously published (Supplementary Table 1; Figure 1). (Posnick et al, 1994; Bottero et al, 1998; Beckett et al, 2012; Kellogg et al, 2012; Ezaldein et al, 2014; Wang et al, 2016; Naran et al, 2017; Cronin et al, 2020; Chandler et al, 2021) Each measurement was performed twice by two independent reviewers, with each set of measurements at least 2 weeks apart. Both inter- and intra-rater reliability were confirmed with a Pearson correlation coefficient >0.9.…”

Section: Methodsmentioning

confidence: 99%

“…Various indices composed of linear distances, angles, and ratios based on imaging have been suggested. (Posnick et al, 1994; Bottero et al, 1998; Beckett et al, 2012; Kellogg et al, 2012; Ezaldein et al, 2014; Wang et al, 2016; Naran et al, 2017; Cronin et al, 2020; Chandler et al, 2021) More recently, a machine learning-derived analysis of skull shape has been used to generate an objective score measuring head shape deformity. (Bhalodia et al, 2020) Initial validation of this algorithm has demonstrated high degree of correlation between the algorithm scores and expert ratings of severity on aggregate.…”

Section: Introductionmentioning

confidence: 99%

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“Validation of Artificial Intelligence Severity Assessment in Metopic Craniosynostosis”

Junn

Dinis

Hauc

et al. 2021

The Cleft Palate Craniofacial Journal

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Objective Several severity metrics have been developed for metopic craniosynostosis, including a recent machine learning-derived algorithm. This study assessed the diagnostic concordance between machine learning and previously published severity indices. Design Preoperative computed tomography (CT) scans of patients who underwent surgical correction of metopic craniosynostosis were quantitatively analyzed for severity. Each scan was manually measured to derive manual severity scores and also received a scaled metopic severity score (MSS) assigned by the machine learning algorithm. Regression analysis was used to correlate manually captured measurements to MSS. ROC analysis was performed for each severity metric and were compared to how accurately they distinguished cases of metopic synostosis from controls. Results In total, 194 CT scans were analyzed, 167 with metopic synostosis and 27 controls. The mean scaled MSS for the patients with metopic was 6.18 ± 2.53 compared to 0.60 ± 1.25 for controls. Multivariable regression analyses yielded an R-square of 0.66, with significant manual measurements of endocranial bifrontal angle (EBA) (P = 0.023), posterior angle of the anterior cranial fossa (p < 0.001), temporal depression angle (P = 0.042), age (P < 0.001), biparietal distance (P < 0.001), interdacryon distance (P = 0.033), and orbital width (P < 0.001). ROC analysis demonstrated a high diagnostic value of the MSS (AUC = 0.96, P < 0.001), which was comparable to other validated indices including the adjusted EBA (AUC = 0.98), EBA (AUC = 0.97), and biparietal/bitemporal ratio (AUC = 0.95). Conclusions The machine learning algorithm offers an objective assessment of morphologic severity that provides a reliable composite impression of severity. The generated score is comparable to other severity indices in ability to distinguish cases of metopic synostosis from controls.

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Metopism in adult South Africans and its relationship to frontal sinus size

Grine,

Greening,

Hernandez

et al. 2023

The Anatomical Record

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This study documents the incidences of complete and partial metopism and their possible relationship to frontal sinus volume (FSV) in a sample of modern adult black South Africans with a view to evaluating the hypothesis that metopism affects frontal sinus hypoplasia. FSV was measured from CT scans and the incidence of metopism was recorded from direct observations of dried cadaveric crania. The sex of each individual was known. Four linear cranial dimensions were used to compute a geometric mean by which to scale FSV. The incidence of partial metopism (38%) is comparable to that reported for other population samples, although there is considerable variation among these global sample frequencies. It is significantly more common in male than female South Africans. FSV in individuals with complete metopism is smaller than average but not inordinately so. On the other hand, FSV is significantly larger in individuals with partial metopism than in those that do not present with this sutural remnant. The data on FSV in individuals with and without partial metopism contradict the hypothesis that there is a relationship between partial metopism and frontal sinus hypoplasia. As such, the metopic remnant evinced by the Late Pleistocene cranium from Hofmeyr, South Africa is unlikely to be related to its very small FSV.

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Distinguishing craniomorphometric characteristics and severity in metopic synostosis patients

Cited by 10 publications

References 25 publications

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report

“Validation of Artificial Intelligence Severity Assessment in Metopic Craniosynostosis”

Metopism in adult South Africans and its relationship to frontal sinus size

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