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Rationale: 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., Patient Concerns: A 9-year-old boy with sleep snoring for 6 years, progressive aggravation in the past 1 month and accompanied by apnea during sleep., Diagnoses: This case was diagnosed with Crouzon syndrome complicated with severe obstructive sleep apnea and severe hypoxemia., Interventions: 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., Outcomes: The wound of nasopharynx recovered well and the sleep state was significantly improved 3 months postoperation., Lessons: 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., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

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., Material and 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., Conclusion: 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.

Competing Interests: Competing interests: None declared.

Background: Crouzon syndrome, a rare genetic disorder characterized by premature closure of coronal sutures, results in skull and facial deformities along with abnormal brain and ocular development., Case Presentation: Here, we report a case of a 27-year-old ethnic han male patient who presented with complex binocular strabismus secondary to Crouzon syndrome. At the time of surgery, extraocular muscles were found to be fibrotic and results of the pathological examination revealed degeneration of muscle fibers, which were replaced by adipose tissue. The entire exome sequencing DNA testing indicated that the patient and his father possessed the fibroblast growth factor receptor 2 (FGFR2) gene c.G812T:p.G271V heterozygous mutation. Binocular strabismus corrective surgery was performed in this patient with a satisfactory outcome., Conclusions: This case demonstrates that Crouzon syndrome patients can show an FGFR2 gene c.G812T:p.G271V mutation and display clinical symptoms such as extraocular muscle fibrosis, exotropia, exophthalmos, and a pointed head deformity., (© 2023. The Author(s).)

Crouzon Syndrome is a genetic craniosynostosis disorder associated with a high risk of ophthalmologic sequelae secondary to structural causes. However, ophthalmologic disorders due to intrinsic nerve aberrations in Crouzon Syndrome have not been described. Optic pathway gliomas (OPGs) are low grade gliomas that are intrinsic to the visual pathway, frequently associated with Neurofibromatosis type 1 (NF-1). OPGs involving both optic nerves without affecting the optic chiasm are rarely seen outside of NF-1. We report an unusual case of bilateral optic nerve glioma without chiasmatic involvement in a 17-month-old male patient with Crouzon Syndrome without any clinical or genetic findings of NF-1. This case suggests that close ophthalmologic follow up and orbital MRIs may benefit patients with Crouzon Syndrome.

Competing Interests: The authors have no financial or conflicts of interest to disclose.

Purpose: The foramen magnum (FM) presents various alterations in craniosynostoses, such as brachycephaly or Crouzon syndrome. However, to date, no study has been devoted to its morphology and morphometry in scaphocephaly, which is the most common of cranial deformities resulting from premature fusion of cranial sutures., Methods: We assessed the morphology and morphometry of FM using preoperative thin-cut CT scans of 107 children with non-syndromic sagittal craniosynostosis aged 1-12 months (mean age 5.38 months). A series of sagittal and transverse dimensions were taken and the FM area was calculated in each case. Obtained data were compared to the age-matched control group of 101 normocephalic children., Results: Dolichotrematous type of FM was dominant in the scaphocephaly group and observed in 63/107 cases (58.9%). The mean FM area in the scaphocephaly group was 519.64 mm 2 and was significantly smaller compared to the control group (p = 0.0011). The transverse diameter and anterior sagittal diameter were also significantly smaller (p = 0.0112 and p = 0.0003, respectively)., Conclusion: The area of FM in scaphocephaly is smaller compared to normal individuals. This is associated with a significant reduction of the width of FM in children with sagittal craniosynostosis. FM in scaphocephaly is larger than in other reported series of children with brachycephaly or Crouzon syndrome., (© 2022. The Author(s).)

Background: Pfieffer syndrome is among the syndromes seen in the recognized variant of the FGFR2 gene. There are several conditions related to this variant and a very closely related condition is Crouzon syndrome. This case is important to report because the neonate was a delayed referral from another region, without clear counseling and information on the gravity of situation. We describe additional features , not previously described in Pfieffer or Crouzon syndrome, supernumerary teeth and localized symmetrical gigantism of thumbs and great toes on both sides. That a genetic testing is essential to further manage and counsel to avoid lost opportunities for future births. Several cases are seen in this unit annually, and there is need for a more consolidated and comprehensive counseling and genetic testing. Once early diagnosis is done and the case is recognized to be untreatable, it was avert the need to refer., Case Presentation: A 2-week-old male African neonate referred from outside the region, presented with massive proptosis soon after delivery, with signs of pan-ophthalmitis and neonatal sepsis. The infant had additional multiple malformations and features initially diagnosed as Crouzon syndrome , but later confirmed after genetic testing to be Type II Pfieffer syndrome. A through clinical evaluation and genetic testing would prevent undue referral to a tertiary center, or if needed, the baby should have been referred much earlier. The uniqueness of this case is the presence of supernumerary teeth., Conclusion: A complicated, difficult to remedy case, referred to tertiary center, investigated, and sent back home with no significant intervention. Genetic test confirmed the typical findings of Pfieffer Type II. Presented for describing additional unique features of supernumerary teeth and localized gigantism and ethical challenges in management., (© 2022. The Author(s).)

Monobloc advancement by distraction osteogenesis is the treatment of choice in patients with syndromic craniosynostosis. This procedure is usually performed at 18 to 24 months/5 to 10 years of age. Herein, we present the case of a male patient with Crouzon syndrome who underwent monobloc advancement at the age of 62 years. Although the patient lived a normal life (employed, married, and being a father of a daughter), he visited our hospital for surgical improvement in facial esthetics. The patient underwent monobloc advancement by distraction osteogenesis. He was satisfied with the postoperative esthetic improvement and did not experience any major complications. This case highlights the fact that patients with syndromic craniosynostosis desire esthetic improvement and suggests that multidisciplinary treatment involving both the neuro and plastic surgeons is important in such cases., Competing Interests: The authors report no conflicts of interest., (Copyright © 2022 by Mutaz B. Habal, MD.)

Background: The purpose of this study was to detail perioperative ophthalmologic evaluations to characterize functional ocular outcomes after facial bipartition surgery., Methods: Patients with hypertelorbitism who underwent facial bipartition surgery were studied specifically for eye motility disorders by separating patients into rare craniofacial clefts (midline and paramedian) (n = 34) and craniofacial dysostosis (Apert, Crouzon, and Pfeiffer) (n = 74). Preoperative and postoperative (12 months) ophthalmologic examinations (with depth perception tests), computed tomography scans, and magnetic resonance imaging scans were analyzed., Results: Among craniofacial cleft patients, mean interdacryon distance was reduced from 39 ± 4 mm to 17 ± 2 mm, with strabismus improved from 88 percent (exotropia 82 percent) preoperatively to only 29 percent postoperatively. Depth perception improved to a lesser degree, with abnormal tests at a rate of 79 percent preoperatively to 56 percent postoperatively. Wider hypertelorbitism had a higher degree of strabismus. Among craniofacial dysostotic patients, mean interdacryon distance was reduced from 37 ± 3 mm to 17 ± 2 mm, and strabismus improved from 55 percent to only 14 percent. Depth perception improved to a lesser degree, with 68 percent abnormal tests preoperatively and 46 percent postoperatively. Apert patients had more V-pattern strabismus and exotropia (79 percent) than did other craniofacial dysostosis patients (42 percent)., Conclusions: The authors' data indicate that facial bipartition for hypertelorbitism-known to improve periorbital aesthetics-also improves eye motility disturbances. Thus, vision problems related to exotropia should be considered a functional indication for facial bipartition surgery in patients with hypertelorbitism., Clinical Question/level of Evidence: Therapeutic, IV., (Copyright © 2022 by the American Society of Plastic Surgeons.)

Background: Oculoorbital disproportion in patients with craniosynostosis has similarities and dissimilarities between syndromic and nonsyndromic cases. The authors hypothesized that these two conditions have specific individual influences as they relate to development of the orbital and periorbital skeletons., Methods: A total of 133 preoperative computed tomography scans (nonsyndromic bicoronal synostosis, n = 38; Apert syndrome bicoronal synostosis subtype, n = 33; Crouzon syndrome bicoronal synostosis subtype, n = 10; controls, n = 52) were included. Craniometric and volumetric analyses related to the orbit and periorbital anatomy were performed., Results: Orbital cavity volume was mildly restricted in nonsyndromic bicoronal synostosis (7 percent, p = 0.147), but more so in Apert and Crouzon syndromes [17 percent (p = 0.002) and 21 percent (p = 0.005), respectively]. The sphenoid side angle in Apert syndrome was wider than when compared to Crouzon syndrome (p = 0.043). The ethmoid side angle in Apert patients, however, was narrower (p = 0.066) than that in Crouzon patients. Maxilla anteroposterior length was more restricted in Apert syndrome than Crouzon syndrome (21 percent, p = 0.003) and nonsyndromic cases (26 percent, p < 0.001). The posterior nasal spine position was retruded in Crouzon syndrome (39 percent, p < 0.001), yet the anterior nasal spine position was similar in Apert and Crouzon syndromes., Conclusions: Orbit and periorbital malformation in syndromic craniosynostosis is likely the combined influence of syndromic influences and premature suture fusion. Apert syndrome expanded the anteriorly contoured lateral orbital wall associated with bicoronal synostosis, whereas Crouzon syndrome had more infraorbital rim retrusion, resulting in more severe exorbitism. Apert syndrome developed maxillary hypoplasia, in addition to the maxillary retrusion, observed in Crouzon syndrome and nonsyndromic bicoronal synostosis patients., Clinical Question/level of Evidence: Risk, II., (Copyright © 2022 by the American Society of Plastic Surgeons.)

Crouzon syndrome with acanthosis nigricans (CAN, a rare type of craniosynostosis characterized by premature suture fusion and neurological impairments) has been linked to a gain-of-function mutation (p.Ala391Glu) in fibroblast growth factor receptor 3 (FGFR3). To characterize the CAN mutation's impact on the skull and on brain functions, we developed the first mouse model (Fgfr3A385E/+) of this syndrome. Surprisingly, Fgfr3A385E/+ mice did not exhibit craniosynostosis but did show severe memory impairments, a structurally abnormal hippocampus, low activity-dependent synaptic plasticity, and overactivation of MAPK/ERK and Akt signaling pathways in the hippocampus. Systemic or brain-specific pharmacological inhibition of FGFR3 overactivation by BGJ398 injections rescued the memory impairments observed in Fgfr3A385E/+ mice. The present study is the first to have demonstrated cognitive impairments associated with brain FGFR3 overactivation, independently of skull abnormalities. Our results provide a better understanding of FGFR3's functional role and the impact of its gain-of-function mutation on brain functions. The modulation of FGFR3 signaling might be of value for treating the neurological disorders associated with craniosynostosis., Competing Interests: Disclosures: L. Legeai-Mallet and F. Oury reported a patent to BIO19248 pending. No other disclosures were reported., (© 2022 Cornille et al.)

Crouzon syndrome is one of the most common craniosynostosis facial syndromes caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Less commonly, there is a mutation of the FGFR3 gene which results in Crouzon syndrome syndrome with acanthosis nigricans. It involves the premature fusion of sutures of the cranial vault, base, orbital and maxillary region. The clinical presentation of this congenital deformity depends on the pattern and timing of sutural fusion. The present report describes the features and management of this syndrome in an 18-year-old woman. The patient presented with a hypoplastic maxilla, deficient midface, exorbitism due to shallow orbits, severe crowding and bilateral crossbite. A multidisciplinary approach involving orthodontics and surgical intervention with distraction osteogenesis brought about marked improvement in the facial profile, occlusion and upper airway. The aesthetics and function were greatly enhanced, and the results were found to be stable at the end of three years.

The aim of this study was to compare optic canal parameters of syndromic craniosynostosis patients with those of normal patients to visit the possibility of optic nerve impingement as a cause of visual impairment. Computed tomography scan images were processed using the Materialise Interactive Medical Image Control System (MIMICS) Research 21.0 software (Materialise NV, Leuven, Belgium). Eleven optic canal parameters were measured: 1) height of optic canal on the cranial side, 2) height of optic canal on the orbital side 3) length of the medial wall of the optic canal, 4) length of the lateral canal wall of the optic canal, 5) diameter of the optic canal at five points (Q1-Q4 and mid canal), and 6) area and perimeter of optic canal. These measurements were obtained for both the right and left optic canals. The study sample comprised four Crouzon syndrome, five Apert syndrome, and three Pfeiffer syndrome patients. The age of these syndromic craniosynostosis patients ranged from 2 to 63 months. The height of the optic canal on the orbital side (p = 0.041), diameter of the mid canal (p = 0.040), and diameter between the mid-canal and the cranial opening (Q3) (p = 0.079) for syndromic craniosynostosis patients were statistically narrower compared with those of normal patients when a significance level of 0.1 was considered. Scatter plots for the ages of patients versus the above parameters gave three separated clusters that suggested the arresting of optic canal development with age. The findings from this study demonstrated a narrowing of the optic canal in syndromic craniosynostosis patients, and indicate that optic canal anatomical characteristics may have an association with visual impairment among pediatric syndromic craniosynostosis patients., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest., (Copyright © 2021 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Objective: Crouzon syndrome with acanthosis nigricans (CAN) is a rare and clinically complex subtype of Crouzon syndrome. At three craniofacial centers, this multicenter study was undertaken to assess clinical signs in relation to the required interventions and treatment course in patients with CAN., Methods: A retrospective cohort study of CAN was performed to obtain information about the clinical treatment course of these patients. Three centers participated: Erasmus Medical Centre, Rotterdam, the Netherlands; John Radcliffe Hospital, Oxford, United Kingdom; and Hôpital Necker-Enfants Malades, Paris, France., Results: Nineteen patients (5 males, 14 females) were included in the study. All children were operated on, with a mean of 2.2 surgeries per patient (range 1-6). Overall, the following procedures were performed: 23 vault expansions, 10 monobloc corrections, 6 midface surgeries, 11 foramen magnum decompressions, 29 CSF-diverting surgeries, 23 shunt-related interventions, and 6 endoscopic third ventriculostomies, 3 of which subsequently required a shunt., Conclusions: This study demonstrates that patients with the mutation c.1172C>A (p.Ala391Glu) in the FGFR3 gene have a severe disease trajectory, requiring multiple surgical procedures. The timing and order of interventions have changed among patients and centers. It was not possible to differentiate the effect of a more severe clinical presentation from the effect of treatment order on outcome.

The introduction of distraction osteogenesis to frontofacial monobloc advancement has increased the safety of the procedure. One hundred forty-seven patients with syndromic craniosynostosis underwent frontofacial monobloc advancement using 4 internal distractors. Twenty-five were aged 18 months or less. Ten patients presented with a tracheostomy, 5 (50%) were decannulated after surgery, and 3 others (30%) required an additional intervention before decannulation. Six patients required the addition of a transfacial pin and external traction. Very early frontofacial monobloc with 4 internal distractors is a safe and effective treatment to protect the ophthalmic, neurologic, and respiratory functions in infants with severe syndromic craniosynostosis., Competing Interests: Disclosures The authors have nothing to disclose. The main author (EA) has renounced to all benefits from KLS Martin for the distractors that carry his name. A partial funding had been obtained for 20 patients in the early part of this prospective studies from PHRC (Projet Hospitalier de Recherche clinique - Ref CRANIORESP 2008), Assistance Publique-Hopitaux de Paris, 3 avenue Victoria, 75004 Paris., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Background: Little is known about the detailed growth of the cranial fossae, even though they provide an important structural connection between the cranial vault and the facial skeleton. This study details the morphologic development of isolated cranial vault synostosis and associated syndromes on cranial fossa development., Methods: A total of 125 computed tomographic scans were included (nonsyndromic bicoronal synostosis, n = 36; Apert syndrome associated with bicoronal synostosis, n = 24; Crouzon syndrome associated with bicoronal synostosis, n = 11; and controls, n = 54). Three-dimensional analyses were produced using Materialise software., Results: The regional anterior and middle cranial fossae volumes of nonsyndromic bicoronal synostosis are characterized by significant increases of 43 percent (p < 0.001) and 60 percent (p < 0.001), respectively, and normal posterior cranial fossa volume. The cranial fossae depths of nonsyndromic bicoronal synostosis were increased, by 37, 42, and 21 percent (all p < 0.001) for anterior, middle, and posterior cranial fossae, respectively, accompanying the shortened cranial fossae lengths. The volume and morphology of all cranial fossae in Apert syndrome nearly paralleled nonsyndromic bicoronal synostosis. However, Crouzon syndrome had reduced depths of cranial fossae, and more restricted fossa volumes than both Apert syndrome and nonsyndromic bicoronal synostosis., Conclusions: Cranial vault suture synostosis is likely to be more influential on cranial fossae development than other associated influences (genetic, morphologic) in Apert and Crouzon syndromes. Isolated Apert syndrome pathogenesis is associated with an elongation of the anterior cranial fossa length in infants, whereas in Crouzon syndrome, there is a tendency to reduce cranial fossa depth, suggesting individual adaptability in cranial fossae development related to vault synostosis., (Copyright © 2021 by the American Society of Plastic Surgeons.)

Background: Obstructive sleep apnea is common in patients with Crouzon syndrome, yet it may be caused by multiple factors. This study aims to investigate the natural history of airway development in preoperative Crouzon patients, from infants to adults. Methods: Preoperative computed tomography (CT) scans (Crouzon syndrome, n  = 73; control, n  = 87) were divided into five age subgroups. CT scans were measured using Materialise software. Results: Before 6 months of age, nasal airway volume in patients with Crouzon syndrome was smaller than normal by 37% ( p  = 0.002), and the cross-sectional area at the choana reduced by 45% ( p  < 0.001). The reduction of nasal airway volume and cross-sectional area reached their nadir at 2 years of age, with shortening of 44% and 63% (both p  < 0.001), respectively. They gradually caught up to normal dimensions after 6 years of age. Between 2 and 6 years, the pharyngeal airway in patients with Crouzon syndrome reduced 44% ( p  = 0.011) compared with controls. However, the airway cross-sectional area at condylion and gonion levels was less than normal, before 6 months (35%, p  = 0.024) and (44%, p  = 0.006) after 2 years of age, respectively. This reduction remains into adulthood. Conclusion: Nasal airway volume is more limited in children with Crouzon syndrome who are younger than 2 years of age. Whereas after 2 years of age, the pharyngeal airway develops significant volume restriction, leading to timing and specific treatment area foci based on the site of temporal maximal constriction.

Rationale: Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and one of the most common types of craniosynostosis. Here we report the detection of FGFR2 mutation and its related clinical findings in 2 patients with Crouzon syndrome from a Chinese family., Patient Concerns: We report a case of a 28-year-old male patient presented with the chief complaint of gradually blurring of his eyes over the last 6 months before visiting our clinics. History revealed low visual acuity in his right eye since childhood. Physical examination showed that both the patient and his mother have the appearance of craniofacial dysostosis, mandibular prognathism, ocular proptosis, short superior lip, scoliosis, and thoracic deformity., Diagnosis: Auxiliary examinations lead to the diagnosis of Crouzon syndrome with binocular optic atrophy, myelinated retina nerve fibers, and ametropia in both eyes, and amblyopia in the right eye of the male patient. The molecular genetic analysis confirmed the diagnosis by detecting a heterozygous pathogenic mutation c.1026C > G (C342W) in exon 10 of FGFR2 in both the patient and his mother, but not in any of the unaffected family members., Interventions and Outcomes: None., Lessons: Our study confirms the presence of optic nerve atrophy in patients with Crouzon syndrome carrying FGFR2 C342W mutations and indicates that MRI and funduscopy should be performed to examine the optic nerve changes for patients with Crouzon syndrome., Competing Interests: The authors have no conflicts of interests to disclose., (Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.)

Crouzon syndrome (CS) is a rare autosomal dominant inherited disorder caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature fusion of the coronal and sagittal sutures of the skull, resulting in clinical manifestations of midfacial hypoplasia, shallow orbit, maxillary dysplasia, and occasional upper respiratory obstruction. This article presents the case of a child aged 2 years and 7 months with CS scheduled for bilateral tonsillectomy and adenoidectomy. The patient had a difficult procedure of extubation and was reintubated and the tracheal intubation was removed 2 days after surgery. The CS is a rare condition with physical characteristics that can result in difficult airway manipulation. It is important for anesthesiologists to recognize and avoid potential airway complications in the management of such patients through detailed preoperative evaluation and careful observation after surgery to reduce perioperative risks.

Background: Crouzon syndrome (CS), which results from fibroblast growth factor receptor 2 mutations, is associated with craniosynostosis, exophthalmos, and other symptoms. Herein, we report the genetic abnormalities detected in a Chinese family with autosomal dominant CS, combined with luxation of the eyeball. This luxation was a consequence of the trauma to the shallow orbits., Case Presentation: The proband was a 4-year-old boy. He accidentally fell, following which luxation of the bulbus oculi occurred immediately. Computed tomography and magnetic resonance imaging clearly revealed ocular proptosis. Upon physical examination, the proband, his father, and grandfather had ocular proptosis, shallow orbits, and mid-face hypoplasia. However, their hands and feet were clinically normal. Genomic DNA was extracted from the peripheral blood through a polymerase chain reaction performed for the target sequence. Genetic assessments revealed a heterozygous missense mutation (c.1012G > C, p.G338R) in exon 10 of the human FGFR2, cosegregated with the disease phenotype in this family. These findings confirmed the diagnosis of CS., Discussion: CS is usually caused by FGFR2 mutations. While there are a few reports of luxation of the bulbus oculi in Chinese families with CS, the ocular proptosis, shallow orbits, combined with luxation of eyeball after trauma observed in this patient were particularly interesting. Our findings enhance the current knowledge of traumatic luxation concomitant with CS.

Summary Clinical data from a case of Crouzon syndrome with secretory otitis media in our department was collected and the related literatures were reviewed. Whole exome sequecing and Sanger sequencing were performed to analyze genetic cause. The 6-year old patient with Crouzon syndrome had snoring and mouth breathing during sleep for 2 years, and was found hearing loss for 2 weeks. The results of endoscopy showed adenoid hypertrophy and secretory otitis media of both ears. And CT scan proved chronic rhinosinusitis. Myringotomy and adenoidectomy were done under general anesthesia. The follow-up at 6 months showed normal sleep and hearing level. A heterozygous fibroblast growth factor receptor 2 missense mutation（c.1061C>G, p.S354C） in exon 8 was identified in this patient., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Simultaneously advancing and medializing the orbital segments in a stable bone bloc constitutes a major advancement in craniofacial surgery. Monobloc bipartition enables destigmatization of the syndromic face by correcting the abnormal orbital axis and interorbital distance. The authors stratified this complex surgical approach into five major steps to facilitate a holistic understanding of the surgical sequence. The rationale for latency and activation periods and the advantages and disadvantages of this technique are described.

Purpose: Cranial lacunae (foci of attenuated calvarial bone) are CT equivalents of "copper beating" seen on plain skull radiographs in children with craniosynostosis. The qualitative presence of copper beating has not been found to be useful for the diagnosis of intracranial hypertension (IH) in these patients. 3D morphometric analysis (3DMA) allows a more systematic and quantitative assessment of calvarial attenuation. We used 3DMA to examine the relationship between cranial lacunae and IH in children with Crouzon and Apert syndromic craniosynostosis., Methods: Patients were divided into IH and non-IH groups defined on an intention-to-treat basis. Pre-operative CT scans were converted into 3D skull models and processed to quantify lacunae as a percentage of calvarium surface area (LCP). This was done on individual bone and whole skull basis., Results: Eighteen consecutive children with Crouzon's syndrome and 17 with Apert syndrome were identified. Median age at CT scan was 135 days (range 6-1778). Of the 35 children, 21 required surgery for IH at median age of 364 days (range 38-1710). Of these 21 children, 14 had lacunae with mean LCP of 3% (0-28%). Of the 14 non-IH children, 8 had lacunae with mean LCP of 2% (0-8%). LCP was not significantly different between IH and non-IH groups. Parietal bones were most likely to show lacunae (IH 14/21, non-IH 9/14), followed by occipital (IH 8/21, non-IH 3/14), and frontal (IH 6/21, non-IH 2/14)., Conclusion: Results suggest that cranial lacunae, measured using quantitative 3DMA, do not correlate with IH, in agreement with evidence from qualitative plain skull radiograph studies.

Crouzon syndrome represents the most common syndromic craniosynostosis. Ocular complications are frequent, including papilledema and optic atrophy, often related to increased intracranial pressure (ICP). However, there is a poor correlation between ICP normalization and resolution of papilledema. We describe the case of a 6-month-old infant who presented with typical phenotypic features of Crouzon syndrome. Pre- and postoperative ICP monitoring was used. Papilledema persisted despite ICP improvement after decompressive craniectomy. Possible causes of papilledema in this syndromic craniosynostosis are discussed in light of the existing literature., (© 2019 S. Karger AG, Basel.)

Le Fort II and III procedures have generally been performed for syndromic craniosynostosis with midfacial hypoplasia and skeletal class III malocclusion. However, some patients have midfacial hypoplasia without malocclusion. Perinasal osteotomy was performed with distraction osteogenesis to move the midface forward in 2 patients (a 17-year old female patient with Crouzon-like disease and a 15-year-old female patient with Antely-Bixler syndrome) with mild midface hypoplasia without malocclusion. The success of the procedure was assured by 3 features: the intermaxillary sutures were fixed by a mini metal plate to prevent separation during distraction; the distraction wires were fixed through the bone of the piriform aperture with the mini metal plates to prevent the wires from coming off; and the osteotomy line was designed in front of the palatomaxillary suture to avoid suture damage. These were expected to secure the procedure. Perinasal osteotomy with distraction osteogenesis is considered one of the recommended procedures for mild midfacial hypoplasia as seen in mild syndromic craniosynostosis without malocclusion.

Crouzon syndrome is the most common cause of syndromic craniosynostosis. The authors present a previously unreported association between Crouzon syndrome and optic nerve hypoplasia. A male infant was transferred to the center for treatment of respiratory distress. He was diagnosed as having dysmorphic features, a membranous choanal stenossi bilaterally, and bilateral optic nerve hypoplasia. Genetic testing confirmed a molecular diagnosis of Crouzon syndrome. He had a complicated course in relation to choanal stenosis management, and was discharged home at 10 weeks of age. Although uncommon in Crouzon syndrome, the association with optic nerve hypoplasia changes the initial work-up and the management of parental expectations. [J Pediatr Ophthalmol Strabismus. 2018;55:e45-e48.]., (Copyright 2018, SLACK Incorporated.)

Leptomeningeal cysts, which are cystic collections filled with cerebrospinal fluid, are rare complications following pediatric head trauma and surgical correction of craniosynostosis. These cysts develop due to cerebrospinal fluid pulsations and brain growth that cause expansion of the dural tears. Although primary repair of the dural defect is the definitive treatment, the risk of cyst recurrence remains. Factors that increase this risk include syndromic craniosynostosis, hydrocephalus, increased intracranial pressure, and inadequate duraplasty/cranioplasty. Here, we report the successful treatment of a child with a complex leptomeningeal cyst on one hemisphere, Crouzon syndrome, and hydrocephalus who showed no cyst recurrence over 2 years of follow-up. We have also reviewed the literature for predictors of post-repair cyst recurrence and preventive surgical techniques in patients with high risk of recurrence.

Our aim was to summarise current published evidence about the prognosis of various techniques of craniofacial distraction osteogenesis, particularly its indications, protocols, and complications. Published papers were acquired from online sources using the keywords "distraction osteogenesis", "Le Fort III", "monobloc", and "syndromic craniosynostosis" in combination with other keywords, such as "craniofacial deformity" and "midface". The search was confined to publications in English, and we followed the guidelines of the PRISMA statement. We found that deformity of the skull resulted mainly from Crouzon syndrome. Recently craniofacial distraction has been achieved by monobloc distraction osteogenesis using an external distraction device during childhood, while Le Fort III distraction osteogenesis was used in maturity. Craniofacial distraction was indicated primarily to correct increased intracranial pressure, exorbitism, and obstructive sleep apnoea in childhood, while midface hypoplasia was the main indication in maturity. Overall the most commonly reported complications were minor inflammatory reactions around the pins, and anticlockwise rotation when using external distraction systems. The mean amount of bony advancement was 12.3mm for an external device, 18.6mm for an internal device and 18.7mm when both external and internal devices were used. Treatment by craniofacial distraction must be validated by long-term studies as there adequate data are lacking, particularly about structural relapse and the assessment of function., (Copyright © 2018 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Objective: To study the audiological outcome and early screening of pre-school going children with craniosynostosis under follow-up at the University of Malaya Medical Center(UMMC), Kuala Lumpur, Malaysia over a 10 year period., Methods: A retrospective descriptive cohort study on the audiological findings detected during the first hearing assessment done on a child with craniosynostosis using otoacoustic emissions, pure tone audiometry or auditory brainstem response examination. The main aim of this study was to evaluate the type and severity of hearing loss when compared between syndromic and non-sydromic craniosynostosis, and other associated contributory factors., Results: A total of 31 patients with 62 ears consisting of 14 male patients and 17 female patients were evaluated. Twenty two patients (71%) were syndromic and 9 (29%) were non-syndromic craniosynostosis. Amongst the syndromic craniosynostosis, 9 (41%) had Apert syndrome, 7 (32%) had Crouzon syndrome, 5 (23%) had Pfieffer syndrome and 1 (4%) had Shaethre Chotzen syndrome. Patients with syndromic craniosynostosis were more likely to present with all types and severity of hearing loss, including severe to profound sensorineural hearing loss while children with non-syndromic craniosynostosis were likely to present with normal hearing (p < 0.05). In addition, when the first hearing test was done at a later age, a hearing loss including sensorineural hearing loss is more likely to be present in a child with syndromic craniosynostosis (p < 0.05)., Conclusion: Our study suggested that children who are born with syndromic craniosynostosis were more likely to suffer from a hearing loss, including that of a severe to profound degree compared to children with non-syndromic craniosynostosis. In addition to that, hearing loss is more likely to be detected when the first hearing test is done at a later age, and this can be an irreversible sensorineural hearing loss. We would like to advocate the need for early audiological screening and follow up in children with syndromic craniosynostosis., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Crouzon syndrome (CS) is one of the craniosynostosis syndromes that leads to early fusion of cranial sutures and increased intracranial pressure. Intracranial hypertension is a serious complication that may lead to vision loss and cognitive impairment. Early detection and management are necessary to prevent complications. The authors present a patient with CS who underwent posterior cranial vault reconstruction with internal distraction after multiple episodes of headache and papilledema. The patient was unaware of any loss of color vision before the surgery; however, he noted an improvement in his color vision after the surgery. Color vision deficits may be an early sign of intracranial hypertension and finding these deficits using noninvasive testing methods may be an indication for early intervention.

Background: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis., Observation: A 10-year-old female patient with Crouzon syndrome and congenital glaucoma treated with trabeculectomy and ocular hypotensive medications was examined. The patient had proptosis, exposure keratopathy, megalocornea, thin central corneal thickness, a shallow anterior chamber, mild anterior subcapsular cataract, and a cup-to-disc ratio of 0.9. Ultrasound biomicroscopy revealed a shallow anterior chamber, posterior synechiae, and closed angle in the right eye, as well as a narrow angle in the left eye, despite an axial length of 28.9 mm in the right eye and 30.0 mm in the left eye, measured by A-scan ultrasound biometry. The crystalline lens thickness measured by ultrasound biomicroscopy was 4.18 mm in the right eye and 4.12 mm in the left eye., Conclusions and Importance: Despite long axial lengths, shallow anterior chambers with occluded angles are possible in Crouzon syndrome and are most likely caused by FGFR2-related anterior segment dysgenesis. To the best of our knowledge, this is the first report that describes closed angles and anterior segment dysgenesis as a secondary cause of congenital glaucoma in Crouzon syndrome.

A case of Crouzon syndrome coupled with OSAHS and congenital heart disease in our hospital was reported. The patient who was a 2 years and 7 months old boy, was admitted in our hospital for repetitive sore throat, snoring with mouth breathing during sleep for more than 2 years and been found with some typical defect of Crouzon syndrome during physical examination. Half a year ago the boy underwent ventricular septal defect closure surgery. PSG shows severe apnea hypopnea and low ventilation existed. Under general anesthesia, the patient accepted bilateral tonsillectomy and adenoidectomy but dyspnea occurred after post-operative extubation till 2 days later the boy can breathe by himself. The follow-up at 6 months and 1 year revealed that the patient did not have snoring or mouth breathing during sleep. For this kind of case, we should assess detailed pre-operation and observe carefully post-operation so as to reduce the perioperative period risks.

Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities., Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests., Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients., Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

Case: A 12-year-old girl with Crouzon syndrome presented to our hospital with scoliosis (114°) and kyphosis from T8 to T12 (138°). After she had been in halo-gravity traction for 2 weeks, we performed posterior correction and fusion surgery from T3 to L3, with a posterior vertebral column resection of T10. She experienced postoperative respiratory failure and remained on a ventilator for 4 weeks. With rehabilitation, the respiratory function had recovered by postoperative week 8. At the 2-year follow-up, there was no loss of correction or any other complication., Conclusion: Serious perioperative respiratory complications may occur when a patient with Crouzon syndrome is treated surgically.

Introduction: The investigators hypothesized that patients with Crouzon syndrome and premature fusion of the spheno-occipital synchondrosis (SOS) more often have, or have more severe midface hypoplasia and obstructive sleep apnea (OSA)., Methods: A prospective cohort study was performed among patients with Crouzon syndrome to analyze SOS closure, midface hypoplasia represented by the sella-nasion angle (SNA) and OSA., Results: Forty patients were included in whom the OSA-prevalence was 65%. Kaplan Meier analyses suggest a trend towards earlier closure of synchondrosis in patients with OSA (p = 0.066). The mean SNA was 74.7°. There was a positive effect of age on the SNA (p = 0.020). There was no difference in SNA for patients with an open SOS as compared to patients with a closed SOS after correction for age., Conclusions: The longitudinal data are suggestive of a trend towards earlier fusion of the SOS in patients with Crouzon syndrome and OSA as compared to patients with Crouzon syndrome without OSA. Although the SNA increases with age, our results suggest that this increase in independent closure of the SOS., (Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)