OBJECTIVE: Crouzon syndrome is a congenital genetic disease caused by mutations of the FGFR2 gene on chromosome 10. It is usually inherited in an autosomal dominant pattern and is one of the most common types of craniosynostosis syndromes. This article focuses on the ophthalmology-related aspects of Crouzon syndrome in order to help diagnose and develop personalized treatment plans.
METHODS: A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: \"Crouzon\", \"craniosynostosis\", \" eye \", \" oculus \", \" ocular \", \" ophthalmic \", \" ophthalmologic \", \" ophthalmology \", \" globe \", \" orbit \", \" exophthalmos \", \" exorbitism \", \" keratopathy \", \" visual \" etc. After the initial screening of these articles, repetitive literatures were excluded.
RESULTS: 47 articles were selected. This article introduces the ocular manifestations, possible pathogenesis and treatment progress in Crouzon syndrome.
CONCLUSIONS: The incidence of ocular abnormalities in Crouzon syndrome is very high, such as shallow orbits, exophthalmos, hypertelorism, exposure keratopathy, strabismus, optic neuropathy, ametropia, glaucoma, etc. The pathogenesis of these ocular abnormalities is related to orbital deformities. Most of the treatments are aimed at compensating the abnormal anatomic structure at present.

BACKGROUND: Incidence of Crouzon syndrome is 1 per 25.000-31.000 newborns. This syndrome is extremely rarely accompanied by optic canal stenosis.
OBJECTIVE: To present a patient with Crouzon syndrome and optic canal stenosis, to discuss the management of such patients considering own and literature data.
METHODS: A 6-year-old boy presented with Crouzon syndrome (verified by molecular genetic research, i.e. FGFR2 gene mutation). The patient underwent 3 surgeries for craniosynostosis and hydrocephalus. Nevertheless, visual acuity progressively decreased despite patent ventriculoperitoneal shunt. Examination revealed severe decrease in visual functions with optic disc congestion under secondary atrophy. MRI data on subarachnoid CSF accumulation over both optic nerves potentially indicated optic canal stenosis. This assumption was confirmed by 3D CT.
RESULTS: The patient underwent decompression of both optic canals with subsequent improvement of visual functions.
CONCLUSIONS: Vision decrease following Crouzon syndrome may be due to optic canal stenosis. Decompression may be effective, even in long-term course of disease, and improve visual functions.
Синдром Крузона встречается с частотой 1 случай на 25—31 тыс. новорожденных и крайне редко сопровождается стенозом каналов зрительных нервов.
UNASSIGNED: Представить случай стеноза зрительных каналов при синдроме Крузона и обсудить тактику ведения и лечения таких больных по собственным данным и материалам литературы.
UNASSIGNED: Мальчик 6 лет с диагнозом «синдром Крузона», верифицированным при молекулярно-генетическом исследовании (мутация гена FGFR2), трижды перенес хирургическое вмешательство по поводу краниосиностоза и гидроцефалии. Тем не менее на фоне функционирующего вентрикулоперитонеального шунта отмечено прогредиентное снижение остроты зрения. При обследовании выявлено выраженное снижение зрительных функций с явлениями отека диска зрительного нерва на фоне его вторичной атрофии. Скопление ликвора в субарахноидальном пространстве обоих зрительных нервов, по данным магнитно-резонансной томограммы, косвенно указывало на наличие стеноза зрительных каналов, что подтвердилось при 3D-компьютерной томографии.
UNASSIGNED: Пациенту выполнена декомпрессия каналов зрительных нервов с двух сторон, приведшая к улучшению зрительных функций.
UNASSIGNED: Снижение зрения при синдроме Крузона может быть обусловлено стенозом каналов зрительных нервов. Декомпрессия зрительных каналов в таких случаях может быть эффективным методом, даже при длительном течении заболевания, и приводить к улучшению зрительных функций.

Crouzon syndrome, distinguished by a classic trio of an atypical skull structure, distinctive facial features, and protruding eyes, ranks among the most prevalent types of craniofacial dysostosis. Therefore, patients presenting with dental abnormalities are under-reported in medical literature despite the developmental neurological defects. We report a rare case of Crouzon syndrome in a four-year-old girl who had forward displacement of the lower jaw, bulging eyes, undeveloped upper jaw, and dental abnormalities. She was evaluated with cranial computed tomography with three-dimensional reconstruction; genetic studies confirmed the findings.

BACKGROUND: Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin-Chaudry-Moss syndrome and Fontaine-Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and postnatal growth restriction, limb shortening, and early aging with characteristic skin changes, phalangeal anomalies, and genital malformations.
METHODS: All known occurrences of FPS have been postnatally observed until now. Here, we present the first two prenatal cases identified during the second trimester of pregnancy. While affirming the presence of most postnatal abnormalities in prenatal cases, we note the absence of a progeroid appearance in young fetuses. Notably, our reports introduce new phenotypic features like encephalocele and nephromegaly, which were previously unseen postnatally. Moreover, paternal SLC25A24 mosaicism was detected in one case.
CONCLUSIONS: We present the initial two fetal instances of FPS, complemented by thorough phenotypic and genetic assessments. Our findings expand the phenotypical spectrum of FPS, unveiling new fetal phenotypic characteristics. Furthermore, one case underscores a potential novel inheritance pattern in this disorder. Lastly, our observations emphasize the efficacy of exome/genome sequencing in both prenatal and postmortem diagnosis of rare polymalformative syndromes with a normal karyotype and array-based comparative genomic hybridization (CGH).

BACKGROUND: Crouzon syndrome is an extremely rare craniofacial dysplasia, which is mainly caused by the early ossification and closure of the coronal suture of the skull. Craniofacial deformities can cause stenosis of the nasal cavity and posterior nasal meatus, resulting in sleep apnea.
METHODS: A 9-year-old boy with sleep snoring for 6 years, progressive aggravation in the past 1 month and accompanied by apnea during sleep.
METHODS: This case was diagnosed with Crouzon syndrome complicated with severe obstructive sleep apnea and severe hypoxemia.
METHODS: After adenoidectomy, he was admitted to the pediatric intensive care unit with ventilator-assisted respiration. During this period, the blood oxygen saturation fluctuated greatly. After trying to extubate, the blood oxygen was difficult to maintain and had to be intubated again. After active treatment, extubation was successful.
RESULTS: The wound of nasopharynx recovered well and the sleep state was significantly improved 3 months postoperation.
CONCLUSIONS: It is suggested that the time of ventilator-assisted breathing should be prolonged and the perioperative airway management should be strengthened in order to reduce the risk of postoperative complications.

Facial dysostosis syndromes (FDS) are rare congenital conditions impacting facial development, often leading to diverse craniofacial abnormalities. This study addresses the scarcity of evidence on these syndromes about optimal diagnostic and treatment practices. To overcome this scarcity, European experts from ERN CRANIO collaborated to develop a clinical consensus statement through the Delphi consensus method. A systematic search of Embase, MEDLINE/PubMed, Cochrane, and Web of Science databases was conducted until February 2023. The quality of evidence was evaluated using various tools depending on the study design. Statements were subsequently formed based on literature and expert opinion, followed by a Delphi process with expert health care providers and patient representatives. In total, 92 experts from various specialties and three patient representatives were involved in the Delphi process. Over 3 voting rounds, consensus was achieved on 92 (46.9%), 58 (59.2%), and 19 (70.4%) statements, respectively. These statements cover the topics of general care; craniofacial reconstruction; the eyes and lacrimal system; upper airway management; genetics; hearing; speech; growth, feeding, and swallowing; dental treatment and orthodontics; extracranial anomalies; and psychology and cognition. The current clinical consensus statement provides valuable insights into optimal diagnostic and treatment practices and identifies key research opportunities for FDS. This consensus statement represents a significant advancement in FDS care, underlining the commitment of health care professionals to improve the understanding and management of these rare syndromes in Europe.

OBJECTIVE: Posterior vault distraction osteogenesis (PVDO) has been utilized during the past 15 years to treat a variety of clinical features commonly presented by patients with Apert syndrome. The objective of this study is to determine the efficacy of PVDO in addressing both elevated intracranial pressure (ICP) and ectopia of the cerebellar tonsils (ECT) in young Apert patients. In addition, we aimed to determine the prevalence of hydrocephalus in Apert syndrome patients who underwent PVDO.
METHODS: A retrospective study was made with a cohort of 40 consecutive patients with syndromic craniosynostosis (SC), previously diagnosed with Apert syndrome, who underwent PVDO between 2012 and 2022, and thereafter received at least 1 year of follow-up care. Demographic data and diagnosis, along with surgical and outcome data, were verified using medical records, clinical photographs, radiologic examination, and interviews with the parents of all cohort patients.
RESULTS: The average patient age when PVDO was performed was 12.91 ± 10 months. The average posterior advancement distance achieved per patient was 22.68 ± 5.26 mm. The average hospital stay per patient was 3.56 ± 2.44 days. The average absolute and relative blood transfusion volumes were 98.47 ml and 17.63 ml/kg, respectively. Although five patients (14%) presented ECT preoperatively, this condition was completely resolved by PVDO in three of these five patients. One of the three patients whose ECT had completely resolved presented syringomyelia postoperatively, requiring subsequent extra dural foramen magnum decompression. All of the remaining four patients were asymptomatic for ECT for at least 1 year of follow-up, and none of these four patients required any additional treatments to address ECT. Two patients presented hydrocephalus requiring ventriculoperitoneal shunt placement.
CONCLUSIONS: This study demonstrates that PVDO both reduces diagnosed elevated ICP symptoms and is partially effective in treating ECT in Apert syndrome patients. Hydrocephalus in Apert syndrome is an uncommon feature. The effectiveness of PVDO in addressing hydrocephalus is uncertain.

To determine the skeletal changes after midface surgery in patients with syndromic craniosynostosis who underwent Le Fort III (LFIII), monobloc (MB), or facial bipartition (FB). This was a retrospective study including 75 patients: 33 treated by LFIII, 29 by MB, and 13 by FB. Twenty-five had a diagnosis of Apert, 39 Crouzon, and 11 craniofrontonasal syndrome. A three-dimensional mesh was created from the preoperative scan and registered to the postoperative scan to visualise the advancement. LFIII at age 7-12 years effectuated a higher mean advancement in the maxillary (15.5 mm) and zygomatic (7.6 mm) regions when compared to ≥13 years (10.2 mm and 5.5 mm). After MB, mean advancement of the fronto-orbital region was higher at <7 years (16.4 mm), and similarly lower at ages 7-12 (13.8 mm) and ≥13 (12.5 mm). The mean preoperative inter-dacryon distance (34.4 ± 4.4 mm) was reduced by 8.7 ± 4.2 mm after FB without distraction (n = 10). More advancement was seen when midface surgery was performed at a younger age, due to more severe cases and a desire for overcorrection. The highest mean advancement was observed in the fronto-orbital region. Antero-inferior rotational movement was seen after all three techniques.

This study investigated how the fusion states of the cranial base is related to the degree of increased intracranial pressure (ICP) in patients with Crouzon syndrome. This retrospective cohort study enrolled patients who were diagnosed with Crouzon syndrome between May 2007 and April 2022. We categorized the patients into three groups: A, B, and C, according to the severity of increased ICP and the number of cranial vault remodeling procedures for corrective operation. The preoperative fusion states of the cranial base sutures/synchondroses were examined using facial bone computed tomography and compared between groups. Overall, 22 patients were included in Groups A, B, and C, including 8, 7, and 7 patients, respectively. The preoperative average grades of the total cranial base suture/synchondrosis fusion appeared to significantly increase with severity, except for the frontoethmoidal suture, which showed the opposite tendency. In the subgroup analysis, frontosphenoidal, sphenoparietal, sphenosquamosal, parietomastoid, and occipitomastoid suture and petro-occipital synchondrosis were associated with earlier fusion in the more severe group. Premature closure of the cranial base sutures/synchodroses seems to be associated with increased ICP severity in patients with Crouzon syndrome. Precise evaluation of minor sutures/synchondroses at the first visit might help build subsequent operative plans and predict disease prognosis.

OBJECTIVE: This study aimed to verify the correlation of the airway-facial phenotype and visualize the morphological variation in Crouzon syndrome patients. Additionally, to develop a non-radiation methodology for airway assessments.
METHODS: In this study, 22 patients diagnosed with Crouzon syndrome (Age: 7.80 ± 5.63 years; Gender distribution: 11 females and 11 males) were analysed. The soft tissue surface and airway were three-dimensionally reconstructed, and the entire facial phenotype was topologized and converted into spatial coordinates. Geometric morphometrics was employed to verify the correlation and visualize dynamic phenotypic variation associated with airway volume. A total of 276 linear variables were automatically derived from 24 anatomical landmarks, and principal component analysis (PCA) identified the 20 most significant parameters for airway evaluation. Correlation analyses between parameters and airway volume were performed. Then, patients were classified into three groups based on airway volume, and the differences among the groups were compared for evaluating the differentiating effectiveness of parameters.
RESULTS: The facial phenotype was strongly correlated with the airway (coefficient: 0.758). Morphological variation was characterized by (i) mandibular protrusion and anticlockwise rotation; (ii) midface retrusion; (iii) supraorbital frontward and (iv) lengthening of the facial height. All the anthropometric parameters were strongly associated with the airway, and the differences among the groups were statistically significant.
CONCLUSIONS: This study confirmed the strong correlation between facial phenotype and airway parameters in Crouzon syndrome patients. Despite the development of the airway, pathological midface retrusion was still aggravated, suggesting that surgical intervention was inevitable. Three-dimensional facial anthropometry has potential as a non-radiation examination for airway evaluation.