Dataset Information

Occult Scaphocephaly: A Forme Fruste Phenotype of Sagittal Craniosynostosis.

ABSTRACT: INTRODUCTION:Latent cranial suture fusions may present with mild or absent phenotypic changes that make the clinical diagnosis challenging. Recent reports describe patients with sagittal synostosis and a normal cranial index (CI), a condition termed normocephalic sagittal craniosynostosis (NSC). The goal of this study is to evaluate the shape and intracranial volume (ICV) in a cohort of NSC patients using quantitative cranial shape analysis (CSA). METHODS:We identified 19 patients (7.5 ± 2.28 years) between 2011 and 2016, who presented to our hospital with NSC. Cranial index and CSA were measured from the computed tomography image. Cranial shape analysis calculates the distances between the patient's cranial shape and its closest normal shape. Intracranial volume was measured and compared to an established age-matched normative database. RESULTS:Cranial index revealed 15 (78.9%) patients within the mesocephalic range and 4 patients (21.1%) in the brachycephalic range. Detailed CSA identified 15 (78.9%) patients with subtle phenotypic changes along the scaphocephalic spectrum (ie, subtle anterior and posterior elongation with inter-parietal narrowing) and 1 patient (5.3%) with isolated overdevelopment on the posterior part of the right parietal bone. Three patients (15.8%) had a CSA close to normal. Mean ICV was 1410.5 ± 192.77cc; most patients (78.9%) fell within ±2 standard deviations. CONCLUSION:Quantitative CSA revealed that most of the patients with NSC had cranial shape abnormalities, consistent with a forme fruste scaphocephaly that could not be otherwise recognized by clinical observation or CI. Given these findings, we propose the term occult scaphocephaly to describe this condition. The associated incidence of intracranial hypertension is unknown.

SUBMITTER: Mantilla-Rivas E

PROVIDER: S-EPMC7343588 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:PurposeTo evaluate the performance of the Ocular Response Analyzer (ORA) (Reichert Ophthalmic Instruments, Depew, NY) variables and Pentacam HR (Oculus Optikgeräte GmbH, Wetzlar, Germany) tomographic parameters in differentiating forme fruste keratoconus (FFKC) from normal corneas, and to assess a combined biomechanical and tomographic parameter to improve outcomes.MethodsSeventy-six eyes of 76 normal patients and 21 eyes of 21 patients with FFKC were included in the study. Fifteen variables were derived from exported ORA signals to characterize putative indicators of biomechanical behavior and 37 ORA waveform parameters were tested. Sixteen tomographic parameters from Pentacam HR were tested. Logistic regression was used to produce a combined biomechanical and tomography linear model. Differences between groups were assessed by the Mann-Whitney U test. The area under the receiver operating characteristics curve (AUROC) was used to compare diagnostic performance.ResultsNo statistically significant differences were found in age, thinnest point, central corneal thickness, and maximum keratometry between groups. Twenty-one parameters showed significant differences between the FFKC and control groups. Among the ORA waveform measurements, the best parameters were those related to the area under the first peak, p1area1 (AUROC, 0.717 ± 0.065). Among the investigator ORA variables, a measure incorporating the pressure-deformation relationship of the entire response cycle was the best predictor (hysteresis loop area, AUROC, 0.688 ± 0.068). Among tomographic parameters, Belin/Ambrósio display showed the highest predictive value (AUROC, 0.91 ± 0.057). A combination of parameters showed the best result (AUROC, 0.953 ± 0.024) outperforming individual parameters.ConclusionsTomographic and biomechanical parameters demonstrated the ability to differentiate FFKC from normal eyes. A combination of both types of information further improved predictive value. [J Refract Surg. 2016;32(7):479-485.].

Dataset Information

Occult Scaphocephaly: A Forme Fruste Phenotype of Sagittal Craniosynostosis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets