Oxycephaly is a specific phenotype of multi-suture craniosynostosis that is often misrepresented. This study aims to review the relevant literature, clarify the diagnostic criteria, and present an alternate approach to its management.
Published literature regarding oxycephaly was reviewed from 1997, when the largest series was published, until 2022. All cases at a single institution were then retrospectively reviewed.
Over the last 25 years, four studies met the inclusion criteria, none of which specifically defined oxycephaly. One case, in one study, was potentially consistent with the phenotype. An institutional review yielded two patients who met the original diagnostic criteria set forth by Renier and Marchac. Both patients had unexplained speech delays, mild retinal nerve fiber layer thickening, and diffuse inner table scalloping, along with the characteristic oxycephalic phenotype. One patient also had a direct intracranial pressure (ICP) measurement of 25 mmHg, and the other had a Chiari I malformation. Both were treated with posterior vault distraction osteogenesis (PVDO) to alleviate the cephalo-cranial disproportion while simultaneously allowing for turricephaly correction.
Oxycephaly presents with late onset multi-suture fusion. Patients have patent sutures at birth. Midface hypoplasia and known syndromic associations are absent. Patients demonstrate supraorbital recession, an obtuse fronto-nasal angle, and turricephaly without substantial brachycephaly. Over 60% of patients have symptomatic ICP elevation, the presentation of which ranges from headaches to rapidly progressive blindness. This rare form of craniosynostosis is particularly virulent and likely often missed due to diagnostic ambiguity and its relatively mild phenotype.

In the article we present the experience of observing 27 children with bilateral stenosis or atresia of the external auditory canals with normal or slightly hypoplastic auricles. Three children had bilateral stenosis of the external auditory canals due to abnormal or premature fusion of the skull bones. The remaining 24 children had external auditory canals atresia in the bone part or throughout. 9 of them had a syndrome of deletion of the long arm of chromosome 18, 1 child had a mosaic form of Edwards syndrome. The average age at the time of diagnosis was 4 years 3 months. Atresia of external auditory canals in normal auricle is often caused by abnormalities of 18 pairs of chromosomes, and severe stenosis of external auditory canals can be observed in children with craniostenosis and other anomalies of the skull bones.
В статье представлен опыт наблюдения за 27 детьми, имеющими двусторонний стеноз или атрезию наружных слуховых проходов (НСП) при нормальных или слегка гипоплазированных ушных раковинах. Три ребенка имели двусторонний стеноз наружных слуховых проходов, обусловленный неправильным или преждевременным сращением костей черепа. Остальные 24 ребенка имели атрезию НСП в костном отделе или на всем протяжении. У 9 из них был установлен синдром делеции длинного плеча 18-й хромосомы, 1 имел мозаичную форму синдрома Эдвардса. Средний возраст на момент установки диагноза составил 4 года 3 мес. Атрезия НСП при нормальных ушных раковинах часто обусловлена аномалиями 18-й пары хромосом, а выраженный стеноз НСП может наблюдаться у детей с краниостенозами и другими аномалиями костей черепа.

Early suturectomy with a rigid endoscope followed by orthotic cranial helmet therapy is an accepted treatment option for single-suture craniosynostosis. To the authors\' knowledge, flexible endoscope-assisted suture release (FEASR) has not been previously described. Presented herein is their experience with FEASR for the treatment of isolated sagittal craniosynostosis.
A retrospective analysis of the health records of patients who had undergone FEASR between March 2018 and December 2020 was performed. Patients under the age of 6 months who had been diagnosed with isolated sagittal synostosis were considered eligible for FEASR. Exclusion criteria included syndromic synostosis or multiple-suture synostosis. The cephalic index, the primary measure of the cosmetic endpoint, was calculated at prespecified intervals: immediately preoperatively and 6 weeks and 12 months postoperatively. Parental satisfaction with the cosmetic outcome was determined throughout the clinical follow-up and documented according to a structured questionnaire for the first 12 months.
A total of 18 consecutive patients met the criteria for study inclusion. The mean patient age at the time of surgery was 3.4 months (range 2-6 months). All patients underwent a wide craniectomy with no need to convert to an open procedure. The mean craniectomy width was 3.61 cm. Estimated blood loss ranged from 5 to 30 ml. The mean operative time was 75 minutes. No intraoperative complications were observed. The average length of stay was 2.6 days. The mean cephalic index was 67.7 preoperatively, 77.1 at 6 weeks postoperatively, and 76.3 at 1 year postoperatively. The mean percentage change in the cephalic index from preoperatively to the 12-month follow-up was 10.44 (p < 0.001). The mean follow-up was 17 months (range 12-28 months). All parents were satisfied with the cosmetic outcome of the procedure. No patients developed symptoms of raised intracranial pressure (ICP) or needed invasive ICP monitoring during the follow-up period. No patients required reoperation.
In this modest single-hospital series, the authors demonstrated the feasibility of FEASR in treating sagittal synostosis with favorable cosmetic outcomes. The morbidity profile and resource utilization of the procedure appear similar to those of procedures conducted via traditional rigid endoscopy.

Craniofacial malformation is one of the most commonly encountered birth defects in the prenatal and postnatal periods. Higher-resolution and 3D antenatal ultrasonography and multidetector computed tomographic scan with 3D reformatted images have improved the definition of the soft tissue and bone structures of the craniofacial anatomy and its malformations. Early diagnosis of these conditions is important to make the clinical decisions and more so in understanding the possibility of malformation recurring in the next pregnancy, which is one of the major concerns for the parents and the treating physicians.

OBJECTIVE: Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurological complications and emergencies. Diagnosis in the past was often made late and with imaging tests that subjected the infant to a high radiation load. Suture ultrasound does not use ionizing radiation; it is easy to perform, allows an early diagnosis, and directs toward the execution of the cranial 3D-CT scan, neurosurgical consultation, and possible intervention. The aim of the study is to describe the high sensitivity and specificity of suture ultrasound for the differential diagnosis between plagiocephaly and craniosynostosis.
METHODS: We reported our prospective experience and compared it with the data in the literature through a systematic review. The systematic review was conducted on electronic medical databases (PubMed, Embase, Cochrane Library, Scopus, and Web of Science) evaluating the published literature up to November 2020. According to Preferred Reporting Items for Systematic Reviews and Meta-ANALYSES (PRISMA statement), we identified 2 eligible studies. Additionally, according to AMSTAR 2, all included reviews have been critically rated as high quality. A total of 120 infants with abnormal skull shape were examined in NICU. All underwent clinical and ultrasound examination.
RESULTS: Of the total, 105 (87.5%) had plagiocephaly and 15 dolichocephaly/scaphocephaly (12.5%). None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%).
CONCLUSIONS: Cranial sutures ultrasonography can be considered in infants a selective, excellent screening method for the evaluation of skull shape deformities as first technique before the 3D CT scan exam and subsequent neurosurgical evaluation. Cranial suture ultrasonography should be considered part of clinical practice especially for pediatricians.

The aim of this study is to present an oral device that improves splanchnocranium stability after osteodistraction in children treated for correction of craniofacial malformations. When removal of the distraction device before the end of the treatment is necessary, the reposition of a new fixation system might not be possible. In these cases, regrown bone is immature, and relapse of malformation occurs frequently. We have been treating these cases by the application of an oral device named Maxillary Advancement Contention (MAC). MAC is used in every patient when any complication interrupts the protocol of osteodistraction before the end of the stabilization time. The device is placed immediately after the removal of the distraction device and left in place for at least three months. We used MAC in six children surgically treated for correction of craniosynostosis with facial or craniofacial advancement. To establish the relapse of malformation we analyzed relations Sella-Nasion-Orbitale (SNOr) and Sella-Nasion-A point (SNA) angles before application of the MAC and after one year. The analysis of stability was excellent in every patient. This device might help, with a minimally invasive procedure, to maintain the obtained advancement allowing stabilization of the regrown bone.

BACKGROUND: Scaphocephaly is usually defined as the deformation of the skull resulting from the premature fusion of the sagittal suture. It is the most common type of craniosynostosis, and can be easily recognized on simple clinical examination. Its pathophysiology is easy to understand and to confirm on neuroradiological examination. In contrast, surgical indications are still somewhat controversial, the dispute mainly concerning therapeutic versus esthetic objectives. In recent years, however, several studies have challenged these basic and relatively simplistic interpretations of the pathophysiology of the condition.
METHODS: To assess the heterogeneity of scaphocephaly, we reviewed cases of scaphocephaly operated on at the Hôpital Femme-Mère-Enfant, Lyon University Hospital, France during a 10-year period (2008-2017) and performed a review of the literature on scaphocephaly and sagittal suture closure.
RESULTS: During the 10-year period, 401 children were operated on for a scaphocephaly at the Hôpital Femme Mère Enfant, Lyon University Hospital. Mean age at surgery was 1.14 years, for a median 0.7 years (range, 4 months to 8. 5 years). Several subtypes could be distinguished according to morphology, intracranial findings on imaging, patient age, and etiology associated to the sagittal synostosis. Two main surgical techniques were used to correct the malformation, depending on patient age, type of deformation and the surgeon\'s preference: cranial vault remodeling with occipital pole widening, with the patient in a prone position, and parietal enlargement with or without forehead remodeling, in dorsal decubitus.
CONCLUSIONS: The complexity and heterogeneous nature of sagittal synostoses depend on different pathogenic mechanisms leading to and interfering with the skull abnormalities: abnormalities of CSF dynamics, possibly associated with systemic alterations, accounting for the varied postoperative morphological and functional course, in terms of cognitive impairment and late complications (notably intra-cranial pressure elevation). However, the real impact of such heterogeneous clinical presentations on surgical indications and surgical results remains to be elucidated.

BACKGROUND: Some metabolic bone disorders may result in the premature closure of one or more calvarial sutures during childhood, potentially leading to a cranioencephalic disproportion. The aim of this paper is to review the characteristics and consequences of craniosynostosis associated with metabolic disorder.
METHODS: A review of the literature on metabolic forms of craniosynostosis was performed.
RESULTS: The most common forms of craniosynostosis associated with metabolic bone disorder were isolated sagittal suture fusion with or without scaphocephaly, and sagittal suture fusion associated with coronal suture fusion (oxycephaly) or also with lambdoid suture fusion (pansynostosis). Synostosis may be well-tolerated, but in some subjects results in neurodevelopmental and functional impairment that is sometimes severe.
CONCLUSIONS: The impact of metabolic synostosis is very variable, depending on the specific underlying metabolic disease, with a large spectrum of morphological and functional consequences. Diagnosis should be early and management should be carried out by a multidisciplinary team with expertise in both rare skeletal disorders and craniosynostosis. The impact of emergent medical therapies recently developed for some of these diseases will be assessed by systematic coherent follow-up of international registries.

What is the impact on child and family when they receive a diagnosis of craniostenosis? And what is the impact of surgery? What is the role of the clinical psychologist in accompanying the child and family, especially during hospital stay and surgery time? We present a few thoughts that help understand the psychological processes at work in case of craniostenosis, giving a little hint of the impact on the life of the child and family - which surgeons, preoccupied by more technical questions, sometimes tend to overlook.

Infants with sagittal suture synostosis often present a pathologic dilatation of subarachnoid spaces. The impact of such subarachnoid spaces\' enlargement in the morphology of the skull, especially on the forehead and on the surgical outcome, was analyzed.
Children less than 6 months of age undergoing a surgical correction of the scaphocephaly with Renier\'s H technique between 2003 and 2008 were included in the study. In these patients, preoperative and postoperative fronto-occipital diameter (FOD), biparietal diameter (BPD), temporal width (TW), and naso-frontal angle (NFA) were measured. Cranial index (CI) and the difference between preoperative and postoperative CI (ΔCI) were calculated. Preoperative cranio-cortical width (CCW) was measured to analyze the subarachnoid spaces\' volumes. The children here considered were then divided into two groups: Group 1 with CCW within normal estimated value corrected for age and Group 2 with CCW larger than estimated normal value.
About 159 children were enrolled (72.3% male). CCW was larger than expected in 95 children (59.8%). A positive correlation between CCW and BPD (P ≤ 0.001) and a negative correlation between CCW and NFA (P ≤ 0.001) were found. When comparing the two groups, the mean age at preoperative computed tomography (CT) scan was 121 days in Group 1 and 110 days in Group 2. The mean age at operation was 130 days in Group 1 and 123 in Group 2. The mean age at postoperative examination (RX or CT scan) was 53.4 months in Group 1 and 51.8 months in Group 2. Preoperatively, the mean BPD, TW, and CI were significantly larger in Group 2 (P ≤ 0.01), whereas the NFA was significantly narrower (P = 0.03). Postoperative analysis showed that ΔCI was statistically different between the two groups (Group 1: 10%, Group 2: 7%; P < 0.04). The duration of follow-up period ranged between 19 and 129 months.
Two main subtypes of forehead of infants with scaphocephaly may be distinguished. Indeed, the morphology of the forehead differs when a pathologic subarachnoid spaces\' enlargement is present preoperatively and it also affects the postoperative evolution. Such observation highlights the importance of evaluating whether subarachnoid spaces are enlarged when planning a surgical correction in isolated sagittal suture synostosis.