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Objective: The objective of this cross-sectional study is to assess the prevalence, course, and management of obstructive sleep apnea (OSA) in children with Robin sequence (RS) aged 1-18 years., Materials and Methods: A cross-sectional study was conducted in 63 children aged 1 to18 years with RS. Patient data were collected on baseline characteristics and management. OSA was evaluated by polysomnography., Results: Sixty-three children with RS were included (median age 8.0 years) and divided into two groups based on the initial treatment: prone positioning or respiratory support. Respiratory support was more often indicated in children with a non-isolated RS (p < 0.05). At cross section, in the prone positioning group (n = 32), one child was diagnosed with OSA. In the respiratory support group (n = 31), 13 children (42 %) had respiratory problems of whom 10 needed respiratory support., Conclusions: Between the age of 1 and 18 years, almost one out of four children with RS still has respiratory problems. Children with RS, who can be treated with prone positioning only as an infant, are not likely to develop obstructive airway problems at a later age. In contrast, children who need respiratory support early after birth are at risk of continuing or re-developing OSA after the age of 1 year., Clinical Relevance: This study shows that those who need respiratory support at an early age need careful monitoring until adulthood.

Background: Trigonocephaly is caused by metopic suture synostosis. It is treated by fronto-orbital remodeling, not only to correct the deformity but also to prevent intracranial hypertension, the reported prevalence in trigonocephaly of which ranges from 0 to 33 percent. To support treatment analysis and the design of a treatment protocol for intracranial hypertension in these patients, the authors wished to more accurately quantify the prevalence of preoperative and postoperative intracranial hypertension in a large patient cohort., Methods: The authors included all trigonocephaly patients born between 2001 and 2013 who had all been operated on at a single center. During follow-up, the presence of intracranial hypertension was evaluated by funduscopy, and occipitofrontal head circumference was measured. The occipitofrontal head circumference curve was analyzed and its relation to intracranial hypertension assessed., Results: In total, 262 patients with trigonocephaly were included. Before surgery, 1.9 percent of them had intracranial hypertension; after surgery, 1.5 percent did (mean age at last follow-up, 4.9 years). Sixteen of 176 patients (9 percent) had occipitofrontal head circumference curve stagnation, which was significantly related to intracranial hypertension (p = 0.001, Fisher's exact test)., Conclusions: Intracranial hypertension occurs only sporadically in patients with metopic suture synostosis. Occipitofrontal head circumference measurement should take a prominent place in the postoperative follow-up of metopic suture synostosis patients; stagnation of the occipitofrontal head circumference requires additional screening for intracranial hypertension., Clinical Question/level of Evidence: Therapeutic, IV.

Background: Children with syndromic craniosynostosis often have obstructive sleep apnea and intracranial hypertension. The authors aimed to evaluate (1) sleep architecture, and determine whether this is influenced by the presence of obstructive sleep apnea and/or intracranial hypertension; and (2) the effect of treatment on sleep architecture., Methods: This study included patients with syndromic craniosynostosis treated at a national referral center, undergoing screening for obstructive sleep apnea and intracranial hypertension. Obstructive sleep apnea was identified by polysomnography, and categorized into no, mild, moderate, or severe. Intracranial hypertension was identified by the presence of papilledema on funduscopy, supplemented by optical coherence tomography and/or intracranial pressure monitoring. Regarding sleep architecture, sleep was divided into rapid eye movement or non-rapid eye movement sleep; respiratory effort-related arousals and sleep efficiency were scored., Results: The authors included 39 patients (median age, 5.9 years): 19 with neither obstructive sleep apnea nor intracranial hypertension, 11 with obstructive sleep apnea (four moderate/severe), six with intracranial hypertension, and three with obstructive sleep apnea and intracranial hypertension. Patients with syndromic craniosynostosis, independent of the presence of mild obstructive sleep apnea and/or intracranial hypertension, have normal sleep architecture compared with age-matched controls. Patients with moderate/severe obstructive sleep apnea have a higher respiratory effort-related arousal index (p < 0.01), lower sleep efficiency (p = 0.01), and less rapid eye movement sleep (p = 0.04). An improvement in sleep architecture was observed following monobloc surgery (n = 5; rapid eye movement sleep, 5.3 percent; p = 0.04)., Conclusions: Children with syndromic craniosynostosis have in principle normal sleep architecture. However, moderate/severe obstructive sleep apnea does lead to disturbed sleep architecture, which fits within a framework of a unifying theory for obstructive sleep apnea, intracranial hypertension, and sleep., Clinical Question/level of Evidence: Risk, II.

Background: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collins syndrome based on levels of evidence and supported with graded recommendations., Methods: A systematic search was performed by means of the PubMed, Web-of-Science, Embase, and Cochrane Central databases (1985 to January of 2014). Included were clinical studies (with five or more Treacher Collins syndrome patients) related to therapy, diagnosis, or risk of concomitant diseases. Level of evidence of the selected articles was rated according to the American Society of Plastic Surgeons evidence-based clinical practice guidelines. After two panelists had reviewed each abstract separately, a consensus method was used to solve any disagreements concerning article inclusion., Results: Of the 2433 identified articles, 63 studies (Level of Evidence II through V) were included. Conclusions and recommendations were extracted consecutively for the following items: upper airway; ear, hearing, and speech; the eye, eyelashes, and lacrimal system; growth, feeding, and swallowing; the nose; psychosocial factors; and craniofacial reconstruction., Conclusions: In this systematic review, current evidence for the multidisciplinary treatment of Treacher Collins syndrome is provided, recommendations for treatment are made, and a proposed algorithm for treatment is presented. Although some topics are well supported, others, especially ocular, nasal, speech, feeding, and swallowing problems, lack sufficient evidence. In addition, craniofacial surgical reconstruction lacks a sufficient level of evidence to provide a sound basis for a full treatment protocol. Despite the rarity of the syndrome, more research is needed to compare outcomes of several surgical treatments, especially in orbitozygomatic/maxillary regions.

Background: Children with Apert and Crouzon-Pfeiffer syndromes are at risk of intracranial hypertension. Until 2005, when the authors switched to occipital expansion, their institution's preferred treatment was fronto-orbital advancement. However, it was still unclear whether (1) occipitofrontal head circumference (i.e., intracranial volume) was greater after occipital expansion than after fronto-orbital advancement; (2) the incidences of tonsillar herniation and papilledema were lower; and (3) visual acuity was better during follow-up. In these patients, the authors therefore compared fronto-orbital advancement with occipital expansion as the first surgical procedure., Methods: Measurements included repeated occipitofrontal head circumference as a measure for intracranial volume; neuroimaging to evaluate tonsillar herniation; funduscopy to identify papilledema; and visual acuity testing., Results: The authors included 37 patients (Apert syndrome, n = 18; Crouzon-Pfeiffer syndrome, n = 19). Eighteen underwent fronto-orbital advancement and 19 underwent occipital expansion (age at surgery, 1.0 versus 1.5 years; p = 0.13). Follow-up time in both groups was 5.7 years. The increase in occipitofrontal head circumference (+1.09 SD) was greater after occipital expansion than after fronto-orbital advancement (+0.32 SD) (p = 0.03). After occipital expansion, fewer patients with Crouzon-Pfeiffer syndrome had tonsillar herniation (occipital, three of 11; fronto-orbital advancement, seven of eight; p = 0.02); for both syndromes together, fewer patients had papilledema (occipital, four of 19; fronto-orbital advancement, 11 of 18; p = 0.02). Visual acuity was similar after fronto-orbital advancement and occipital expansion (0.09 versus 0.13 logarithm of the minimum angle of resolution) (p = 0.28)., Conclusions: The authors' preference for occipital expansion as the initial craniofacial procedure in Apert and Crouzon-Pfeiffer syndromes is supported by the greater increase it produces in intracranial volume (as evidenced by the occipitofrontal head circumference), which reduces the incidences of tonsillar herniation and papilledema., Clinical Question/level of Evidence: Therapeutic, III.

Background: The purpose of this study was to examine the relationship of head growth, obstructive sleep apnea, and intracranial hypertension in patients with syndromic or complex craniosynostosis, and to evaluate the authors' standardized treatment protocol for the management of intracranial hypertension in these patients., Methods: The authors conducted a prospective observational cohort study of patients with syndromic craniosynostosis at a national referral center, treated according to a standardized protocol. Measurements included occipitofrontal head circumference, with growth arrest defined as downward deflection in occipitofrontal head circumference trajectory greater than or equal to a 0.5 SD fall from baseline over 2 years, or lack of change in occipitofrontal head circumference growth curve; sleep studies, with results dichotomized into no/mild versus moderate/severe obstructive sleep apnea; and funduscopy to indicate papilledema, supplemented by optical coherence tomography and/or intracranial pressure monitoring to identify intracranial hypertension., Results: The authors included 62 patients, of whom 21 (33.9 percent) had intracranial hypertension, 39 (62.9 percent) had obstructive sleep apnea, and 20 (32.3 percent) had occipitofrontal head circumference growth arrest during the study. Age at which intracranial hypertension first occurred was 2.0 years (range, 0.4 to 6.0 years). Preoperatively, 13 patients (21.0 percent) had intracranial hypertension, which was associated only with moderate/severe obstructive sleep apnea (p = 0.012). In the first year after surgery, intracranial hypertension was particularly related to occipitofrontal head circumference growth arrest (p = 0.006). Beyond 1 year after surgery, intracranial hypertension was associated with a combination of occipitofrontal head circumference growth arrest (p < 0.001) and moderate/severe obstructive sleep apnea (p = 0.007)., Conclusions: Children with syndromic craniosynostosis are at risk of intracranial hypertension. The major determinant of this after vault expansion is impaired head growth, which may occur at varying ages. The presence of moderate/severe obstructive sleep apnea also significantly increases the risk of intracranial hypertension., Clinicial Question/level of Evidence: Risk, III.

Background: Breast implants are high-risk devices that have been at the epicenter of much debate and controversy. In light of the Poly Implant Prothèse crisis, data registries among 11 national societies around the world are cooperatively calling for the urgent need to establish robust national clinical quality registries based on international best practice within a framework of international collaboration., Methods: A survey was conducted on the historic and current status of national breast device registries. Eleven countries participated in the study, illustrating different data collection systems and registries around the world. Data collection was designed to illustrate the capabilities of current national registries, with particular focus on capture rate and outcome reporting mechanisms., Results: A study of national breast implant registries revealed that less than half of the participating countries had operational registries and that none of these had adequately high data capture to enable reliable outcome analysis. The study revealed that the two most common problems that discouraged participation are the complexity of data sets and the opt-in consent model., Conclusions: Recent implant crises have highlighted the need for robust registries. This article argues the importance of securing at least 90 percent data capture, which is achievable through the opt-out consent model. Since adopting this model, the Australian Breast Device Registry has increased data capture from 4 percent to over 97 percent. Simultaneously, it is important to foster international collaboration from the outset to avoid duplication of efforts and enable the development of effective international early warning systems.

Background: Cranial sutures and synchondroses tend to close prematurely in patients with Crouzon syndrome. This influences their skull vault and skull base development and may involve in common disturbances such as increased intracranial pressure and cerebellar tonsillar herniation. The authors' hypothesis was that Crouzon patients patients have a smaller foramen magnum than controls because of premature fusion of the intraoccipital synchondroses, putting them at risk for cerebellar tonsillar herniation. Therefore, foramen magnum size and time of intraoccipital synchondroses closure were evaluated and were related to the presence and degree of cerebellar tonsillar herniation., Methods: The foramen magnum surface area and anteroposterior diameter were measured on three-dimensional computed tomographic scans of 27 Crouzon patients and 27 age-matched controls. Scans had a slice-thickness between 0.75 and 1.25 mm and were aligned in a three-dimensional reformatting platform. The t test was used to study size differences. Synchondroses were graded as described by Madeline and Elster and studied with ordinal logistic regression analysis., Results: Crouzon patients had a smaller foramen magnum surface area (602 mm versus 767 mm, p < 0.001) and anteroposterior diameter (31 mm versus 35 mm, p < 0.001) compared with controls. Differences stayed constant over time. Intraoccipital synchondroses closed 3 to 9 months earlier in Crouzon patients than in controls (p < 0.05)., Conclusions: Since intraoccipital synchondroses close earlier in Crouzon patients, from early life on their foramen magnum is smaller compared with controls. Within Crouzon patients, the presence of cerebellar tonsillar herniation could not be related to foramen magnum size., Clinical Question/level of Evidence: Risk, II.

Background: The application of a new approach is presented, percutaneous aponeurotomy and lipofilling, which is a minimally invasive, incisionless alternative to traditional flap reconstructions., Methods: The restrictive subdermal cicatrix and/or endogenous aponeurosis is punctured, producing staggered nicks. Expansion of the restriction reconstructs the defect and creates a vascularized scaffold with micro-openings that are seeded with lipografts. Wide subcutaneous cuts that lead to macrocavities and subsequent graft failure are avoided. Postoperatively, a splint to hold open the neomatrix/graft construct in its expansive state is applied until the grafts mature. Thirty-one patients underwent one to three operations (average, two) for defects that normally require flap tissue transfer: wounds where primary closure was not possible (n=9), contour defects of the trunk and breast requiring large-volume fat grafts (n=8), burn contractures (n=5), radiation scars (n=6), and congenital constriction bands (n=3)., Results: The regenerated tissue was similar in texture and consistency to the surrounding tissues. Wider meshed areas had greater tissue gain (range, 20 to 30 percent). There were no significant wound-healing issues, scars, or donor-site morbidities. Advancement tension was relieved without flap undermining or decreased perfusion., Conclusions: Realizing that, whether scar or endogenous fascia, the subdermal aponeurosis limits tissue stretch and/or its three-dimensional expansion, a minimally invasive procedure that expands this cicatrix into a matrix ideally suited for fat micrografts was developed. Grafting this scaffold applies tissue-engineering principles to generate the needed tissue and represents a regenerative alternative to reconstructive flap surgery., Clinical Question/level of Evidence: Therapeutic, V.

Children with craniosynostosis are at risk for increased intracranial pressure, and additional possibilities to screen for increased intracranial pressure are required. The authors' aim was to use ultrasound measurements of the optic nerve sheath to understand and express the variability of intracranial pressure in syndromic craniosynostosis. Therefore, five pediatric patients with craniosynostosis underwent invasive 24-hour intracranial pressure monitoring and simultaneous optic nerve sheath measurements. In three patients, the intracranial pressure was abnormal, and during the second half of the night, the optic nerve sheath was increased in all three patients. The optic nerve sheath diameter changes during the night and is as dynamic as the intracranial pressure. To the best of their knowledge, the authors are the first to describe a real-time relationship of the optic nerve sheath with increased intracranial pressure in children.

Background: In adults with severe congenital facial disfigurement, assessment of long-term psychological impact remains limited. This study determines the long-term psychological functioning in these patients and evaluates differences compared with patients with acquired facial disfigurement and a non-facially disfigured reference group. Also explored is the extent to which psychological functioning of the congenital group is related to satisfaction with facial appearance, fear of negative appearance evaluation by others, self-esteem, and severity of the facial deformity., Methods: Fifty-nine adults with severe congenital facial disfigurement, 59 adults with a traumatically acquired facial deformity in adulthood, and 120 non-facially disfigured adults completed standardized psychological, physical, and demographic questionnaires, including the Fear of Negative Appearance Evaluation Scale, the Rosenberg Self-Esteem Scale, the Hospital Anxiety and Depression Scale, the Achenbach Adult Self-Report, the 36-Item Short-Form Health Survey, and a visual analogue scale., Results: Adults with severe congenital facial disfigurement had relatively normal psychological functioning but appeared more prone to internalizing problems than the non-facially disfigured adults. Compared with patients with an acquired facial deformity, the congenital group displayed fewer problems on the physical component score of quality of life only. Satisfaction with facial appearance, fear of negative appearance evaluation, and self-esteem were good predictors of the different aspects of psychological functioning, with the exception of the physical component score of quality of life., Conclusions: Improving satisfaction with facial appearance (by surgery), enhancing self-esteem, or lowering fear of negative appearance evaluation (by psychological support) may enhance long-term psychological functioning. Future research should focus on the individual patient and risk factors for maladjustment., Clinical Question/level of Evidence: Risk, II.

Background: To investigate the changes of upper airway volume in syndromic craniosynostosis patients following Le Fort III advancement, computed tomographic scans were analyzed and related to the amount of advancement., Methods: In this retrospective study, the preoperative and postoperative computed tomographic scans of 19 patients with syndromic craniosynostosis who underwent Le Fort III advancement were analyzed. In four cases, preoperative polysomnography demonstrated obstructive sleep apnea. The airway was segmented using a semiautomatic region growing method with a fixed Hounsfield threshold value. Airway volumes of hypopharynx and oropharynx (compartment A) and nasopharynx and nasal cavity (compartment B) were analyzed separately, as was the total airway volume. Advancement of the midface was recorded using lateral skull radiographs. Data were analyzed for all patients together and for patients with Crouzon/Pfeiffer and Apert syndromes separately., Results: Airway volume increased significantly in compartment A (20 percent; p = 0.044) and compartment B (48 percent; p < 0.001), as did total airway volume in (37 percent; p < 0.001) in the total study group. No significant differences in volume changes were found comparing Apert with Crouzon/Pfeiffer patients. No distinct relation could be found between advancement of the midface and volume gain either in the total study group or in Apert and Crouzon/Pfeiffer patient groups separately. Postoperative polysomnography showed significant improvement of obstructive sleep apnea in all four patients., Conclusions: A significant improvement of the upper airway after Le Fort III advancement in syndromic craniosynostosis patients is demonstrated. No distinct relation could be observed between advancement and airway volume changes.