Scaphocephaly

INTRODUCTION: The recently described frontal bossing index (FBI) and occipital bullet index (OBI) allow for quantification of scaphocephaly. A similar index examining biparietal narrowing has not been described. Addition of such an index measuring width would allow for direct evaluation of the primary growth restriction in sagittal craniosynostosis (SC) and the formation of an optimized global Width/Length measure. METHODS: CT scans and 3D photos were used to recreate scalp surface anatomy...

The cartilage hair hypoplasia and anauxetic dysplasia (CHH-AD) spectrum encompasses a group of rare skeletal disorders, with anauxetic dysplasia (ANXD) at the most severe end of the spectrum. Biallelic variants in RMRP, POP1, and NEPRO (C3orf17) have previously been associated with the three currently recognized ANXD types. Generally, all types are characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, and extensive skeletal abnormalities visible on radiological evaluation...

BACKGROUND: Elevated intracranial pressure (ICP) in sagittal craniosynostosis has a wide spectrum of reported incidence, and patterns are not well understood across infancy and childhood. Characterizing the natural history of ICP in this population may clarify risks for neurocognitive delay and inform treatment decisions. METHODS: Infants and children with sagittal craniosynostosis and unaffected control subjects were prospectively evaluated with spectral-domain optical coherence tomography (OCT) from 2014-2021...

OBJECTIVE: Sagittal craniosynostosis is the most common form of craniosynostosis and typically results in scaphocephaly, which is characterized by biparietal narrowing, compensatory frontal bossing, and an occipital prominence. The cephalic index (CI) is a simple metric for quantifying the degree of cranial narrowing and is often used to diagnose sagittal craniosynostosis. However, patients with variant forms of sagittal craniosynostosis may present with a "normal" CI, depending on the part of the suture that is closed...

BACKGROUND: Sagittal craniosynostosis (SC) restricts craniofacial growth perpendicular to the sagittal plane resulting in scaphocephaly. The cranium grows in the anterior-posterior dimension causing disproportionate changes, which can be corrected with either cranial vault reconstruction (CVR) or endoscopic strip craniectomy (ESC) combined with post-operative helmet therapy. ESC is performed at an earlier age, and studies demonstrate benefits in risk profile and morbidity compared to CVR, with comparable results if the post-operative banding protocol is strictly upheld...

PURPOSE: Numerous classification systems of nonsyndromic sagittal craniosynostosis (NSC) are applied but none has gained a wide acceptance, since each classification is focused on distinct aspects of cranial dysmorphology. The goal of this study was to depict the most common combinations of radiomorphologic characteristics of NSC and to separate groups where the patients were morphologically similar to one another and at the same time significantly different from others. METHODS: The study was conducted on anonymized thin-cut CT scans of 131 children with NSC aged 1-12 months (mean age 5...

Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X-linked hypophosphatemia (XLH), is less common and is typically diagnosed later than congenital craniosynostosis. XLH is a rare, progressive, and lifelong hereditary phosphate-wasting disorder characterized by loss of function of the phosphate-regulating endopeptidase homologue, X-linked gene, which is associated with premature fusion of cranial sutures due to abnormal phosphate metabolism (hypophosphatemia) and altered bone mineralization or elevated levels of fibroblast growth factor 23...

No abstract text is available yet for this article.

OBJECTIVE: Endoscope-assisted repair of sagittal craniosynostosis is an effective technique that requires a learning curve. Surgical simulation models can be applied to acquire the necessary skills for this procedure. Several models with a wide range of costs have been described for training in this technique. The aim of this work was to present the results of training with a low-cost simulation model for endoscope-assisted sagittal craniosynostosis repair. METHODS: A simulation model for sagittal craniosynostosis was developed using low-cost materials...

Scaphocephaly is the commonest form of craniosynostosis with a varied presentation consisting of many morphological components and a range of possible surgical interventions. However, with regard to esthetic assessment, there is no universally applied assessment system. The aim was to develop a simple assessment tool encompassing multiple phenotypic components of scaphocephaly. This was done by piloting a red/amber/green (RAG) scoring system to judge esthetic outcomes following scaphocephaly surgery using photographs and experienced observers...

BACKGROUND: We previously published our protocol to treat patients who present with sagittal craniosynostosis after the age of one year. The purpose of this study is to present a follow-up and update of this cohort to evaluate outcomes of our treatment protocol. METHODS: Patients with isolated sagittal craniosynostosis who presented after the age of one year between July 2013 and April 2021 were included. RESULTS: 108 patients met inclusion criteria...

PURPOSE: The aim of this case-control study was to investigate occlusal characteristics, received orthodontic treatment, oral health-related quality of life (OHRQoL), and satisfaction with dental esthetics in adults operated due to sagittal synostosis. METHODS: The study group consisted of 40 adults (25 males, 15 females, mean age 27.4 years, range 18-41) who were operated due to isolated sagittal synostosis in childhood. The control group comprised 40 age and gender-matched adults...

Spring-assisted cranioplasty (SAC) for the treatment of craniosynostosis uses internal springs to produce dynamic changes in cranial shape over several months before its removal. The purpose of this study was to report the first Egyptian experiences with SAC in the treatment of children with sagittal synostosis and evaluate the preliminary outcome. A total of 17 consecutive patients with scaphocephaly underwent SAC with a midline osteotomy along the fused sagittal suture and insertion of 3 springs with bayonet-shaped ends across the opened suture...

PURPOSE: This study aims to quantify the change in three-dimensional skull morphometrics for patients with sagittal synostosis (SS) at presentation, after surgery, and at two-year follow-up. METHODS: CT scans from 91 patients with isolated SS were age, gender, and race-matched to 273 controls. We performed vector analysis with linear regressions to model the impact of open middle and posterior cranial vault remodeling on cranial shape and growth. RESULTS: Anterior cranial volume, bossing angle and frontal shape were not changed by surgery but normalized without surgical intervention by 2 years...

BACKGROUND: In centers for craniosynostosis surgery, the volume of activity does not necessarily reflect the quality of the treatment. OBJECTIVE: Our aim was to analyze a retrospective series of patients over a period of 6 years in a low-volume craniosynostosis surgery center, and to study indicators that reflect the quality of treatment. PATIENTS AND METHODS: The analysis included all patients who underwent a craniofacial surgery for all forms of craniosynostosis during the period 2012-2017 (annual follow-up for 4 years)...

Distraction osteogenesis is the standard surgical procedure for cranioplasty in children over 6 months of age. This technique carries a risk of detachment of the extender and infection during the course, but such troubles can be reduced by accumulating surgical experience. In addition, furing distraction osteogenesis, the cranium can be sufficiently expanded by slowly stretching the scalp, while adjustment ensures that the facial appearance does not change too much. In this paper, I will explain the surgical technique and postoperative management, focusing on FOA(Fronto-orbital advancement)for trigonocephaly or brachycephaly and BPE(Bilateral parietal expansion)for scaphocephaly...

OBJECTIVE: Aesthetic assessment after surgery for non-syndromic single suture craniosynostosis (SSC) is crucial. Surgeons' evaluation is generally based on Whitaker classification, while parental impression is generally neglected. The aim of this paper is to compare aesthetic perceptions of parents and surgeons after surgery for SSC, expressed by a 10-item questionnaire that complement Whitaker's classification. METHODS: The authors submitted a 10-item questionnaire integrating Whitaker's classification in order to evaluate the degree of satisfaction, the detailed aesthetics results and the need for surgical revision, to surgeons and parents of a consecutive series of patients operated for SSC between January 2007 and December 2018...

OBJECTIVE: The authors present a case series of patients with Chiari I malformations treated with distraction osteogenesis of the posterior cranial vault, utilizing a vertical distraction vector for appropriate cranial vault expansion while mitigating the risks of scaphocephaly and cerebellar ptosis. PATIENTS AND METHODS: Patients with syndromic and nonsyndromic Chiari I malformations treated with vertical-vector distraction osteogenesis of the posterior cranial vault were identified from 2008 to 2014...

This paper describes a unique case of craniosynostosis in a female skull in which sagittal sutures were completely fused by adolescence. Despite sagittal synostosis, the skull was of normal shape and size. Regarding craniometric features, the synostotic normocephalic skull was markedly different than that of scaphocephalic skulls which typically result from premature obliteration of the sagittal suture.

Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures...