The influence of orbital architecture on strabismus in craniosynostosis.

PURPOSE: To better characterize the correlation of bony orbital dysmorphology with strabismus in craniosynostosis. METHODS: The medical records of patients with craniosynostosis with and without strabismus seen at Rady Children's Hospital (San Diego, CA) from March 2020 to January 2022 were reviewed retrospectively in this masked, case-control study. Computed tomography scans of the orbits were analyzed to obtain dimensions of the orbital entrance and orbital cone. Primary outcome was correlation of strabismus with orbital measurements. RESULTS: A total of 30 orbits from 15 patients with strabismus and 15 controls were included. Craniofacial disorders included in the study were nonsyndromic craniosynostosis (63%), Crouzon syndrome (13%), Apert syndrome (13%), and Pfeiffer syndrome (10%). Orbital index (height:width ratio) (P = 0.01) and medial orbital wall angle (P = 0.04) were found to differ significantly between the strabismus and control groups. CONCLUSIONS: In our small cohort, bony orbital dimensions, including the ratio of orbital height to width and bowing of the medial orbital wall, were associated with strabismus in craniosynostosis.

Patient Tailored Surgery in Saethre-Chotzen Syndrome: Analysis of Reoperation for Intracranial Hypertension.

Saethre-Chotzen syndrome (SCS) is a syndromic craniosynostosis with pathogenic variants in the TWIST1 gene showing a broad phenotypic spectrum. Controversies exist in the literature regarding surgical management with single one-stage versus patient-tailored surgery and the related reoperation rate for intracranial hypertension of up to 42%. At our center, SCS patients are offered patient-tailored surgery with single-stage fronto-orbital advancement and remodeling or fronto-orbital advancement and remodeling and posterior distraction in an individually determined order. The authors' database identified 35 confirmed SCS patients between 1999 and 2022. Involved sutures in craniosynostosis were left unicoronal (22.9%), bicoronal (22.9%), sagittal (8.6%), bicoronal and sagittal (5.7%), right unicoronal (2.9%), bicoronal and metopic (2.9%), bicoronal, sagittal and metopic (2.9%), and bilateral lambdoid (2.9%). There was pansynostosis in 8.6% and no craniosynostosis in 14.3% of the patients. Twenty-six patients, 10 females, and 16 males were operated on. Mean age at the first surgery was 1.70 years, and 3.86 years at the second surgery. Eleven of 26 patients had invasive intracranial pressure monitoring. Three patients presented with papilledema before the first surgery and 4 afterward. Four of the 26 operated patients were operated initially elsewhere. The other 22 patients were initially referred to our unit and underwent patient-tailored surgery. Nine of these patients (41%) had a second surgery, and 3 (14%) of them were because of raised intracranial pressure. Seven (27%) of all operated patients had a complication. Median follow-up was 13.98 years (range, 1.85-18.08). Patient-tailored surgery in a specialized center and long-term follow-up allow for a low reoperation rate for intracranial hypertension.

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse.

Heterozygous loss of function mutations in TWIST1 cause Saethre-Chotzen syndrome, which is characterized by craniosynostosis, facial asymmetry, ptosis, strabismus, and distinctive ear appearance. Individuals with syndromic craniosynostosis have high rates of strabismus and ptosis, but the underlying pathology is unknown. Some individuals with syndromic craniosynostosis have been noted to have absence of individual extraocular muscles or abnormal insertions of the extraocular muscles on the globe. Using conditional knock-out alleles for Twist1 in cranial mesenchyme, we test the hypothesis that Twist1 is required for extraocular muscle organization and position, attachment to the globe, and/or innervation by the cranial nerves. We examined the extraocular muscles in conditional Twist1 knock-out animals using Twist2-cre and Pdgfrb-cre drivers. Both are expressed in cranial mesoderm and neural crest. Conditional inactivation of Twist1 using these drivers leads to disorganized extraocular muscles that cannot be reliably identified as specific muscles. Tendons do not form normally at the insertion and origin of these dysplastic muscles. Knock-out of Twist1 expression in tendon precursors, using scleraxis-cre, however, does not alter EOM organization. Furthermore, developing motor neurons, which do not express Twist1, display abnormal axonal trajectories in the orbit in the presence of dysplastic extraocular muscles. Strabismus in individuals with TWIST1 mutations may therefore be caused by abnormalities in extraocular muscle development and secondary abnormalities in innervation and tendon formation.

Optic Nerve Atrophy in Syndromic Craniosynostosis.

BACKGROUND: Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors. METHODS: The authors conducted a retrospective chart review of all children with syndromic craniosynostosis treated at a single center. RESULTS: Of 442 patients with syndromic craniosynostosis, complete ophthalmologic records were available for 253. Although no instances of optic nerve atrophy were noted among those with Saethre-Chotzen or Muenke syndromes, an overall 14.7 percent prevalence was noted among those with Apert (7.8 percent), Crouzon (27.9 percent), and Pfeiffer syndromes (23.1 percent), with initial diagnoses occurring at a mean age of 10 years. The presence of a Chiari malformation was found to significantly correlate with the subsequent diagnosis of optic nerve atrophy (OR, 3.544; p = 0.002); however, the timing of the first cranial vault procedure, presence of a ventriculoperitoneal shunt, degree of brachycephaly, number of vault expansions, and diagnosis of sleep apnea, did not show significant associations. CONCLUSIONS: A substantial percentage of children with Apert, Crouzon, and Pfeiffer syndromes were found to develop optic nerve atrophy, with a prevalence likely to trend higher with longer follow-up. Chiari malformations were the only significant potential predictor for optic nerve atrophy. With the goal of preventing visual losses, more frequent monitoring for raised intracranial pressure with ophthalmologic evaluations and magnetic resonance imaging measurements of optic nerve sheath diameters should be considered. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.

INTRODUCTION: Apert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss in children with Apert syndrome in comparison to the general population. The aim of this study was to gain an understanding of the inner ear radiological anatomical variations seen in children with Apert syndrome and correlate these with audiological outcomes. MATERIALS AND METHODS: This was a retrospective review of computed tomography imaging of patients with Apert syndrome. Radiological images were examined for anatomical variations in inner ear structures. These were correlated with audiological testing. RESULTS: Nineteen patients were included in the study. The most commonly observed anomaly was an absent bony window of the lateral semi-circular canal (SCC) in 11 patients (58%), followed by an enlarged lateral SCC in 12 patients (63%). This combination of anomalies was seen collectively in 42% of patients and together these give the appearance of a 'rectangular vestibular cavity'. Audiological results were available in 11 patients and 9 of these patients had a conductive hearing loss. CONCLUSION: To the authors' knowledge, this is the first study that reports radiological findings alongside audiological testing in Apert syndrome and describes the appearance of a 'rectangular vestibular cavity'.

Apert syndrome: an informative long-term dentofacial outcome.

The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and midface sutures as well as extremity anomalies characterised by syndactyly. Early cranial sutural fusion results in craniocerebral disproportion which can lead to crisis surgical intervention due to raised intracranial pressure, ophthalmic and compromised airway concerns. Childhood inventions are often determined by psychosocial concerns and adult surgical interventions are often determined by cosmetic concerns. Treatments are provided by many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is often associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients MDT members have opportunities to provide enhanced patient-centred care and support.This case report provides an overview of the current knowledge of the aetiology of AS, illustrates the pathway of surgical and non-surgical management of AS and provides a long-term review of the dentofacial treatment outcomes.By having a better understanding of the impact of AS and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies, in particular, an increased awareness of the psychosocial challenges they endure.

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.

BACKGROUND: Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear. METHODS: Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared. Craniometric and volumetric analyses related to the orbital and periorbital anatomy were performed using Materialise (Leuven, Belgium) software. RESULTS: Overall, orbital cavity volume of Pfeiffer patients is reduced by 28 percent (p < 0.001), compared to normal, starting before 3 months of age (p = 0.004). Globe volume was diminished by 10 percent (p = 0.041) before 3 months of age, yet tended to catch up thereafter. However, the retrobulbar soft-tissue volume remained smaller beyond 1 year of age (17 percent, p = 0.003). Globe volume projection beyond the bony orbit increased in all observed ages (82 percent, p < 0.001). The volumes of sphenoid bone, maxilla, and mandible proportionately were restricted by 24 to 25 percent (p = 0.003 to 0.035) before 3 months of age. The volume of maxilla and mandible gradually approximate normal; however, the sphenoid bone volume in Pfeiffer patients remains less than normal (p = 0.002) into childhood. The anteroposterior length of both the zygoma and the maxilla was reduced by 14 percent (p < 0.001). Anterior positioning of the zygoma is less by 23 percent (p < 0.001) in Pfeiffer patients overall, with anterior positioning of maxilla reduced similarly by 23 percent (p < 0.001). CONCLUSIONS: Pfeiffer syndrome patients develop decreased retrobulbar soft-tissue and globe volume, along with a restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma). CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Visual outcomes in children with syndromic craniosynostosis: a review of 165 cases.

OBJECTIVE: To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. METHODS: We conducted a single-centre, retrospective chart review of patients assessed at our unit between October 2000 and May 2017. Our outcome measures were as follows: age at first and last examination, refraction, horizontal ocular alignment, alphabet pattern deviations, anterior segment appearance, fundus examination findings, visual evoked potentials (VEPs) and genetics. The study's primary endpoint was the proportion of children achieving best-corrected visual acuity (BCVA) ≥ 6/12 in the better eye at final visit, as per UK driving standards. RESULTS: 165 patients were included in this study. Breakdown of diagnoses was as follows: Crouzon (n = 60), Apert (n = 57), Pfeiffer (n = 14) and Saethre-Chotzen (n = 34). 98 patients were male. Of 133 patients with full BCVA data available, 76.7% achieved BCVA ≥ 6/12 in the better eye. Of 122 patients, anisometropia >1.00 dioptre sphere (DS) affected 18.9% and astigmatism ≥1.00DS in at least one eye affected 67.2%. Of 246 eyes, 48.4% had oblique astigmatism. Of 165 patients, 60 had exotropia and 12 had esotropia. 48 of 99 patients demonstrated 'V' pattern. On multivariable logistic regression, nystagmus (p = 0.009) and ON involvement (p = 0.001) were associated with decreased vision in the worse eye. Normal VEPs were associated with better BCVA (p = 0.036). CONCLUSION: There was a high prevalence of amblyogenic factors, however, the majority achieved BCVA ≥ 6/12 in their better eye. Optic neuropathy and nystagmus had the most significant impact on vision. VEPs can help the in overall assessment of visual function.

Congenital inferior turbinate hypertrophy: an overlooked entity in newborns and review of the literature.

BACKGROUND: Neonatal nasal obstruction may result in respiratory distress, feeding difficulties, sleep apnoea and failure to thrive; hence, it requires thorough evaluation and prompt intervention. Congenital inferior turbinate hypertrophy is relatively uncommon, and its presentation can mimic other congenital nasal anomalies. RELEVANCE: This paper reports two cases of congenital inferior turbinate hypertrophy in neonates that resulted in significant respiratory distress, feeding difficulties and sleep disturbance. Both patients were successfully treated surgically by endoscopic nasal dilatation and stenting. A literature search was performed to identify articles on congenital inferior turbinate hypertrophy in neonates and its management. CONCLUSION: Albeit rare, congenital inferior turbinate hypertrophy should be considered a differential diagnosis in newborns presenting with respiratory distress at birth.

The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis.

Mastocytosis is a heterogeneous disease characterized by an abnormal accumulation of mast cells (MCs) in 1 or several organs. Although a somatic KIT D816V mutation is detected in ∼85% of patients, attempts to demonstrate its oncogenic effect alone have repeatedly failed, suggesting that additional pathways are involved in MC transformation. From 3 children presenting with both Greig cephalopolysyndactyly syndrome (GCPS, Mendelian Inheritance in Man [175700]) and congenital mastocytosis, we demonstrated the involvement of the hedgehog (Hh) pathway in mastocytosis. GCPS is an extremely rare syndrome resulting from haploinsufficiency of GLI3, the major repressor of Hh family members. From these familial cases of mastocytosis, we demonstrate that the Hh pathway is barely active in normal primary MCs and is overactive in neoplastic MCs. GLI3 and KIT mutations had a synergistic, tumorigenic effect on the onset of mastocytosis in a GCPS mouse model. Finally, Hh inhibitors suppressed neoplastic MC proliferation in vitro and extend the survival time of mice with aggressive systemic mastocytosis (ASM). This work revealed, for the first time, the involvement of Hh signaling in the pathophysiology of mastocytosis and demonstrated the cooperative effects of the KIT and Hh oncogenic pathways in mice with ASM, leading to the identification of new promising therapeutic targets.

Optic canal characteristics in pediatric syndromic craniosynostosis.

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.

Respective Roles of Craniosynostosis and Syndromic Influences on Cranial Fossa Development.

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.

Slide Tracheoplasty for Tracheal Cartilaginous Sleeve in a Patient With Apert Syndrome.

Apert syndrome is a form of acrocephalosyndactyly involving craniosynostosis, syndactyly, and less commonly, tracheal cartilaginous sleeve (TCS), a potential cause of tracheal stenosis. Slide tracheoplasty is performed in children with tracheal stenosis. No reports exist for its application in stenosis related to TCS. We present a case in which slide tracheoplasty was used for the expansion of long segment tracheal stenosis owing to TCS in a newborn with Apert syndrome. Using this technique, a safe and durable airway was achieved without tracheostomy.

Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.

BACKGROUND: Pfeiffer syndrome is associated with a genetic mutation of the FGFR2 (or more rarely, FGFR1) gene, and features the combination of craniosynostosis, midface hypoplasia, broad thumbs and broad great toes. Previous research has identified a wide spectrum of clinical phenotypes in patients with Pfeiffer syndrome. This study aimed to investigate the multifactorial considerations for speech, language, hearing and feeding development in patients with severe genetically-confirmed Pfeiffer syndrome. METHODS: A 23-year retrospective case-note review of patients attending the Oxford Craniofacial Unit was undertaken. Patients were categorized according to genotype. Patients with mutations located in FGFR1, or outside the FGFR2 IgIII domain-hotspot, or representing known Crouzon/Pfeiffer overlap substitutions were excluded. Twelve patients with severe FGFR2-associated Pfeiffer syndrome were identified. RESULTS: Patients most commonly had pansynostosis (n = 8) followed by bicoronal (n = 3), and bicoronal and sagittal synostosis (n = 1). Seven patients had a Chiari I malformation. Four patients had a diagnosis of epilepsy. Ten patients had with hydrocephalus necessitating ventriculoperitoneal shunt insertion.Feeding difficulties were common (n = 10/12) and multifactorial. In 5/12 cases, they were associated with pansynostosis, hydrocephalus, tracheostomy and tube feeding in infancy.Hearing data were available for 10 patients, of whom 9 had conductive hearing loss, and 8 required hearing aids. Results indicated that 3/4 patients had expressive language difficulties, 3/4 had appropriate receptive language skills. 6/12 patients had a speech sound disorder and abnormal resonance. CONCLUSION: This study has identified important speech, language, hearing and feeding issues in patients with severe FGFR2-associated Pfeiffer syndrome. Results indicate that a high rate of motor-based oral stage feeding difficulties, and pharyngeal stage swallowing difficulties necessitating regular review by specialist craniofacial speech and language therapists.

Long-term Management of a Patient with Apert Syndrome.

AIM AND OBJECTIVE: To present an Apert syndrome patient with midfacial growth deficiency treated with Le Fort III distraction osteogenesis and subsequent two-jaw surgery. BACKGROUND: Apert syndrome is expressed as a severe and irregular craniosynostosis, midfacial hypoplasia, and symmetric syndactyly in the fingers and toes. For craniosynostosis syndromes, treatment planning is complex due to the disharmony between facial profile and occlusion. CASE DESCRIPTION: A 4-year-and-5-month-old boy, diagnosed with Apert syndrome, showed a concave profile accompanied with midfacial hypoplasia, moderate exorbitism, a reversed occlusion of -10.0 mm, an anterior open bite of -5.0 mm, and skeletal class III jaw-base relationship. The patient, aged 15 years and 4 months, underwent a Le Fort III osteotomy, and subsequent osteodistraction was performed via a rigid external distraction (RED) device. His midfacial bone was advanced by approximately 7.0 mm. One year after the distraction, preoperative treatment with 0.018-in preadjusted edgewise appliances was initiated. Two-jaw surgery with a Le Fort I osteotomy and bilateral sagittal split ramus osteotomy was performed after 42 months of preoperative orthodontic treatment. At the age of 20 years and 9 months, his facial profile dramatically changed to a straight profile, and an acceptable occlusion with an adequate interincisal relationship was obtained. A functional occlusion with an excellent facial profile was maintained throughout the 2-year retention period, although the upper dental arch width was slightly decreased, resulting in the recurrence of the left posterior crossbite. CONCLUSION: Our report indicates the necessity of long-term follow-up in patients with craniosynostosis because of syndrome-specific growth and methodologically induced relapse. CLINICAL SIGNIFICANCE: The two-stage operation combining early distraction osteogenesis and postgrowth orthognathic surgery proves to be an effective therapy for correcting midfacial hypoplasia and skeletal mandibular protrusion caused by Apert syndrome.

Nervous system involvement in Pfeiffer syndrome.

Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Multiple-suture synostosis is common, and it is the premature fusion and abnormal growth of the facial skeleton's bones that cause the characteristic facial features of these patients. Brain abnormalities in PS can be primary or secondary. Primary anomalies are specific developmental brain defects including disorders of the white matter. Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, "butterfly" vertebra, and sacrococcygeal extension. Different features have been observed in different types of this syndrome. Cloverleaf skull deformity characterizes PS type II. The main neurological abnormalities are mental retardation, learning difficulties, and seizures. The tricky neurological examination in severely affected patients makes difficult the early diagnosis of neurological and neurosurgical complications. Prenatal diagnosis of PS is possible either molecularly or by sonography, and the differential diagnosis includes other craniosynostosis syndromes. Knowing how PS affects the nervous system is important, not only for understanding its pathogenesis and determining its prognosis but also for the guidance of decision-making in the various critical steps of its management. The latter necessitates an experienced multidisciplinary team.

Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.

AIM: To assess the long-term outcomes of our management protocol for Saethre-Chotzen syndrome, which includes one-stage fronto-orbital advancement. METHOD: All patients born with Saethre-Chotzen syndrome between January 1992 and March 2017 were included. Evaluated parameters included occipital frontal head circumference (OFC), fundoscopy, neuroimaging (ventricular size, tonsillar position, and the presence of collaterals/an abnormal transverse sinus), polysomnography, and ophthalmological outcomes. The relationship between papilledema and its associated risk factors was evaluated with Fisher's exact test. RESULTS: Thirty-two patients (21 females, 11 males) were included. Median (SD) age at first surgery was 9.6 months (3.1mo) for patients who were primarily referred to our center (range: 3.6-13.0mo), the median (SD) age at last follow-up was 13 years (5y 7mo; range: 3-25y). Seven patients had papilledema preoperatively, which recurred in two. Two patients had papilledema solely after first surgery. Second cranial vault expansion was indicated in 20%. Thirteen patients had an OFC deflection, indicating restricted skull growth, one patient had ventriculomegaly, and none developed hydrocephalus. Eleven patients had emissary veins, while the transverse sinus was aberrant unilaterally in 13 (hypoplastic n=10 and absent n=3). Four patients had mild tonsillar descent, one of which was a Chiari type I malformation. Four patients had obstructive sleep apnoea (two mild, one moderate, and one severe). An aberrant transverse sinus was associated with papilledema (p=0.01). INTERPRETATION: Single one-stage fronto-orbital advancement was sufficient to prevent intracranial hypertension for 80% of our patients with Saethre-Chotzen syndrome. Follow-up should focus on OFC deflection and venous anomalies.

Management of Paronychia in Patients With Apert Syndrome.

Apert syndrome is a complex congenital syndrome that includes bicoronal craniosynostosis, craniofacial dysmorphologies, cleft palate, hearing loss, spina bifida occulta, cardiac anomalies, and affects the upper and lower extremities-producing complex syndactyly in these patients. Management of the hands yields several challenges and mandates close follow-up to balance repair of complex polysyndactyly with other pressing interventions, such as posterior cranial vault distraction and surgical management of the airway. Our goals of therapy for the hands are to preserve 10 digits, provide sufficient soft tissue coverage, optimize hand function, and minimize the number of surgical interventions. Ideally, surgical management of the hand differences occurs between the ages of 9 months and 2 years, to optimize neurocognitive development. In complex syndactyly observed in patients with Apert syndrome, there are broad, conjoined nail plates that overlie the fused digits, and paronychia occurs frequently. Suppurative infections can delay definitive surgical intervention for the patient's complex syndactyly, and resolution of paronychia is critical. This study aims to propose an effective and safe technique to manage paronychia when it occurs in patients with Apert complex syndactyly and to mitigate the length of delay to definitive polysyndactyly reconstruction. In the context of these patients' need for multiple surgical interventions within the first few years of life, this strategy for preventing or mitigating paronychia can play an important role in streamlining their complex surgical management while avoiding multiple cancellations.

Radiographic Characteristics of the Hand in Apert Syndrome.

Background: In a small series, it has been postulated that delayed release of complex syndactyly of the 3rd web in Apert syndrome patients causes compression on epiphyses, with early epiphyseal closure, leading to symphalangism and reduced capitate ossification. We wished to see whether this remains true in a larger series. Methods: We reviewed radiographs of 48 patients (86 hands) with Apert syndrome seen in the department of Plastic and Reconstructive Surgery, Great Ormond Street Hospital, between the years 2001-2012. Patients underwent surgical release of syndactyly in a staged fashion with the 3rd web release left until last. We measured the size of the capitate ossification center relative to that of the hamate and determined the relative position of the middle finger metacarpal relative to the ring finger metacarpal. Results: We found agreement with many findings, however we weren't able to demonstrate the catch-up growth of the capitate after release of the third web. The failure of normal distal migration of the 3rd metacarpal appeared to occur until the 3rd web release is performed. Conclusions: Consistent findings of delayed ossification of the capitate and failure of normal distal migration of the third metacarpal add support to the initial hypothesis, however, we cannot fully conclude that an earlier release of the third web is recommended, further research is still needed.