Prenatal ultrasound parameters in single-suture craniosynostosis.

INTRODUCTION: Although single-suture craniosynostosis is diagnosed sporadically during pregnancy, timely referral is critical for its treatment. Additionally, craniosynostosis leads to increased maternofetal trauma during birth. In the Netherlands, 95% of pregnant women receive a standard ultrasound at around 20 weeks of gestation, potentially an ideal setting for detecting craniosynostosis prenatally. To enhance the prenatal detection of the metopic and the sagittal suture synostosis, we wished to identify new screening parameters. MATERIALS AND METHODS: We retrospectively analyzed data of the 20-week anomaly scan in trigonocephaly patients (n = 41), scaphocephaly patients (n = 41), and matched controls (n = 82). We measured six different cranial dimensions, including head circumference, biparietal diameter, and occipito-frontal diameter, defining the cephalic index as the ratio between biparietal and occipito-frontal diameter. RESULTS: Prenatal biometric measurements did not differ significantly between trigonocephaly patients and controls. Although significantly lower in scaphocephaly patients (0.76 versus 0.79; p = .000), the cephalic index by itself is not appropriate for screening at 20 weeks of gestation. Longitudinal analysis suggests that a deflection in BPD curve is found in scaphocephaly patients, starting at 20 weeks of gestation. CONCLUSIONS: Prenatal biometric measurements do not differ significantly between trigonocephaly patients and controls. The CI is lower in scaphocephaly patients. A deflection in BPD curve should be followed by 3 D imaging of the cranial sutures.

Nasal sequelae of Treacher Collins syndrome.

OBJECTIVE: This study aimed to determine external and endonasal deformity, and satisfaction with nasal functioning and appearance, in Treacher Collins syndrome. STUDY DESIGN: A cross-sectional cohort study was conducted. METHODS: Eleven adult patients with Treacher Collins syndrome were compared with 151 controls in terms of satisfaction with nasal functioning and appearance by means of the Nasal Appearance and Function Evaluation Questionnaire. In all patients with Treacher Collins syndrome, external nasal deformities were scored on standardized digital photographs of the nose as rated independently by three experienced physicians. Endonasal deformity was determined by standardized nasal endoscopy. RESULTS: The patients were relatively satisfied with the various esthetic nasal subunits. The most significant functional problems were snoring (P = 0.001) and quality of phonation (P = 0.003). The main external nasal deformities were the dorsal hump (73%), external deviation (≤55%), the bifid or bulbous nasal tip (55%), and columellar septal luxation (55%). In 82% of the patients, a septal deviation was found, often associated with spurs. CONCLUSION: Satisfaction with esthetics of the nose was fair, but these patients suffer from the functional problems of snoring and impaired quality of phonation. A structured nasal ENT physical examination with nasal endoscopy might determine aspects requiring more attention during treatment. Septorhinoplasty can be performed at an adult age if there is a considerable esthetic wish of the patient and/or nasal obstruction combined with septal deviation. Attention should be paid to dorsal hump reduction, correction of the deviated external osseous framework, septoplasty, and correction of the nasal tip shape. LEVEL OF EVIDENCE: 2b.

Unilateral versus bilateral correction of unicoronal synostosis: an analysis of long-term results.

INTRODUCTION: Hollowing of the temporal region is a common problem after cranioplasty for unicoronal synostosis. In this study, first, the development of temporal hollowing pre- and postoperatively is evaluated. Second, the origin of temporal hollowing is investigated by comparing two operative techniques. Ultimately, the relation between timing of surgery and the development of hollowing is investigated. METHODS: From 1979 to 2010, 194 patients with unicoronal synostosis were operated at our center. Patients were treated with a unilateral or bilateral correction of the supraorbital rim. A total of 48 patients qualified for the present study. Mean age at follow-up was 7.5 years. Cephalic landmarks were identified on radiographs prior to and after surgery to determine the growth of the forehead. For visual analysis, two independent observers evaluated normal photographs for the presence and severity of temporal hollowing. RESULTS: Preoperative osseous asymmetry improved significantly after surgery. A total of 21 patients show an increase of temporal hollowing on photographs after surgery (46%). In 35 out of 48 patients, postoperative temporal hollowing was noted (73%). Bilaterally treated patients showed more severe temporal hollowing compared to unilaterally treated patients, though not significantly (23% vs. 6%, p = 0.229). Timing of surgery (before or after the age of 1 year) did not influence the occurrence of severe temporal hollowing. CONCLUSIONS: Fronto-supraorbital advancement was unable to achieve normal growth in the temporal region in a large proportion of patients, although more symmetry was achieved. The operative technique itself did not seem to influence the occurrence of temporal hollowing, nor did the timing of surgery.

Cognitive and behavioral functioning in 82 patients with trigonocephaly.

BACKGROUND: The main objective of the present study was to assess the prevalence rates of attention deficit hyperactivity disorder, oppositional defiant disorder, conduct disorder, and features of autism spectrum disorders in trigonocephalic patients, using validated instruments and by ruling out the confounding influence of IQ. The second aim was to assess the association between extracranial anomalies and cognitive and/or behavioral problems in patients with trigonocephaly. METHODS: Objectives were studied in 82 trigonocephalic patients aged 4 to 18 years at the Erasmus Medical Center in Rotterdam, The Netherlands. Features of autism spectrum disorders were assessed using the Social Communication Questionnaire. Attention deficit hyperactivity disorder, oppositional defiant disorder, and conduct disorder were assessed with the Diagnostic Interview Schedule for Children-Parent Version. The presence and nature of extracranial anomalies were ascertained by a clinician. RESULTS: Mental retardation (IQ <70) was present in 9 percent of patients with trigonocephaly. Findings indicated a 70 percent versus 24 percent prevalence of psychopathology (attention deficit hyperactivity disorder, oppositional defiant disorder, conduct disorder, or features of autism spectrum disorder) in patients with IQ levels of, respectively, <85 and ≥85. In the latter group, psychopathology was not significantly more common than expected based on prevalence rates reported in community samples. Extracranial anomalies were significantly correlated with lower IQ levels. However, when adjusted for IQ, the presence of extracranial malformations was not associated with an increased risk of behavioral problems. CONCLUSION: The relatively high prevalence of behavioral problems in patients with trigonocephaly seems to be mainly attributable to the co-occurrence of trigonocephaly and low intelligence.

Internal carotid dissection after Le Fort III distraction in Apert syndrome: a case report.

A 10-year-old girl with Apert syndrome underwent a Le Fort III osteotomy with the positioning of internal and external distraction devices. The operation was straightforward with no intraoperative complications. Very soon after completion of surgery an anisocoria (unilateral dilation of a pupil) was noticed. This was followed by intracranial oedema which was fatal. The aetiology was dissection of the right internal carotid artery is reported. The complications of Le Fort osteotomies are discussed regarding patients with complex syndromal craniosynostosis and midface hypoplasia, such as Apert syndrome.

Papilledema in isolated single-suture craniosynostosis: prevalence and predictive factors.

The purpose of this retrospective study was to assess the prevalence of papilledema in patients with isolated craniosynostosis. Second, we wanted to assess if the presence of ventricular dilatation on computed tomography (CT) scan is a predictive factor for the occurrence of papilledema. We included 205 consecutive children with an isolated single-suture craniosynostosis, who had at least 1 fundus examination. Preoperative CT scans of the brain were examined for the presence of ventricular dilatation.Papilledema developed in 14 of 205 patients: 10 developed papilledema before surgery and 4 during the follow-up period. Ten of the patients with papilledema had a synostosis of the sagittal suture, and 4 of the metopic suture. Prevalence of papilledema in scaphocephaly was 9.7%, and in trigonocephaly, 5.6%. Based on evaluation of all CT scans, ventricular dilatation seemed not to be a predictive factor for papilledema in children with isolated craniosynostosis.The incidence of papilledema in almost 10% of scaphocephaly patients is remarkably higher than expected. Therefore, we recommend routine preoperative screening, especially for patients with scaphocephaly, but also for patients with trigonocephaly. Postoperative screening is recommended in all patients when there is any uncertainty.

The risk of psychopathology in children with craniosynostosis.

BACKGROUND: The purpose of this study was to assess the prevalence of behavioral and emotional problems in patients with craniosynostosis and to determine the prospective association of a beaten-copper pattern before 18 months of age with behavioral and emotional problems in patients with craniosynostosis. METHODS: The authors performed a follow-up study of 115 craniosynostosis patients at the Erasmus Children's University Hospital in Rotterdam. Behavioral and emotional problems were assessed with the Child Behavior Checklist at a mean age of 8 years. The presence of beaten-copper pattern before the age of 18 months was assessed on presurgical radiographs. Analyses were adjusted for intelligence quotient. RESULTS: Whereas craniosynostosis patients with intelligence quotients of 85 or greater did not differ from children in the normal group, craniosynostosis patients with intelligence quotients less than 85 had a higher risk of behavioral and emotional problems. However, these results were comparable to the findings of other studies assessing psychopathology in children with lower intelligence levels. Type of craniosynostosis (single suture versus complex) and a beaten-copper pattern before the age of 18 months did not affect the risk for behavioral and emotional problems in children with craniosynostosis. CONCLUSION: When intelligence is taken into account, craniosynostosis is not associated with an increased risk of behavioral and emotional problems, nor is type of craniosynostosis or a beaten-copper pattern before the age of 18 months.

On the origin of bitemporal hollowing.

INTRODUCTION: Long-term results after cranioplasty for trigonocephaly often show bitemporal hollowing and a residual hypotelorism. Both findings fuel the perception that the growth of the periorbital region and the forehead as a whole continues to be restricted, even after correction. The aim of this study was to evaluate the growth process of the periorbital region after correction for trigonocephaly in the long term. MATERIALS AND METHODS: From 1972 to 2004, 184 patients underwent a cranioplasty for the correction of nonsyndromatic trigonocephaly. Cephalometric analysis was performed in 33 of these patients who had their radiographs taken on the same day as the photograph, at least 1 year postoperative and before the age of 6 years. Cephalic landmarks were used to analyze the growth of the forehead. Because of the lack of standardized cephalograms, growth ratios were used instead of absolute measurements. For visual analysis, normal anteroposterior photographs were used, which were taken on the same day as the radiograph. Two observers evaluated the anteroposterior photographs for the presence and level of temporal hollowing. A score of 0 (normal), 1 (moderate deformity), or 2 (severe deformity) was assigned to each of the photographs. RESULTS: A significant relation was found between a severe deformation seen at postoperative photographic evaluation and a lower growth ratio. The preoperative photo score was not of predicting value for the postoperative growth ratio and therefore, indirectly, for the postoperative photo score. The mean preoperative photo score dropped 5% after surgery. The age at operation had no influence on this postoperative photo score. The experience of the surgeon, however, was a significant contributing factor. CONCLUSIONS: Temporal hollowing seems to be of bony origin and can be explained by skeletal growth inhibition in the affected area. When present immediately after operation, they seem to persist through the years, which makes surgical skill another factor of importance.

Unblocking the nose by unplugging the ear: the use of foam ear defenders as a splint following secondary cleft rhinoplasty.

OBJECTIVE: The functional and aesthetic result from secondary cleft rhinoplasty is commonly impaired by a bulge in the lateral nasal vestibule, which can relapse in the postoperative period despite careful intraoperative correction. We aim to improve our results by using a foam ear defender as a postoperative splint to prevent relapse. DESIGN: Case series of 10 patients with photographs of a typical clinical case. INTERVENTIONS: The postoperative nasal pack was exchanged with a foam ear defender on day 5. The splint was worn continuously for 3 to 4 weeks, then nightly for 3 months. The splint was changed daily by the patient. MAIN OUTCOME MEASURES: The results were assessed clinically by the senior author. RESULTS: The patients had little or no recurrence of the lateral vestibular bulge following nasal splintage. CONCLUSIONS: Foam ear defenders are a simple, cheap, and comfortable method to provide splintage to the nasal vestibule following secondary cleft rhinoplasty.

Bitemporal depressions after cranioplasty for trigonocephaly: a long-term evaluation of (supra) orbital growth in 92 patients.

Long-term results after cranioplasty for trigonocephaly often show bitemporal depressions and a residual hypotelorism. Both findings fuel the perception that the growth of the periorbital region and the forehead as a whole continues to be restricted, even after correction. The aim of this study is to evaluate the growth process of the periorbital region after correction for trigonocephaly in the long term. From 1986 to 2004, 123 patients underwent a cranioplasty for the correction of trigonocephaly. Cephalometric analysis was performed on the radiographs taken at presentation and on the last available radiograph before the age of 6 years (92 posteroanterior and 93 lateral cephalograms). Cephalic landmarks were used to analyze the growth of the forehead: Mo (medial orbital wall), Lo (lateral orbital wall), Losp (crosspoint between lateral orbital wall and sphenoid), and Eu (most lateral point of the skull). As a result of the lack of standardized cephalograms, growth ratios were used instead of absolute numbers. The Eu-Eu growth rate was higher than the Lo-Lo rate, which in its turn surpassed the Losp-Losp rate. An initial undercorrection of the hypotelorism was noted followed by an increased limited autocorrection. A higher Mo-Mo growth rate was noted in the group operated after 1 year of age. Increased interorbital growth accounts for an autocorrection of the residual hypotelorism. The growth rate of the anterotemporal area (Losp) was shown to be the lowest, which could explain the bitemporal depressions so often seen after a frontosupraorbital cranioplasty.

Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors.

Patients with syndromic craniosynostosis are at risk for elevated intracranial pressure because of various physiologic and anatomic abnormalities. The aims of this study were to determine the prevalence of papilledema in syndromic craniosynostosis, to evaluate the results of the treatment, and to examine the risk factors. This is a retrospective study on 84 patients with Apert, Crouzon, or Pfeiffer syndrome. Papilledema was defined as blurring of the margins of the optic disk. The association between clinical symptoms, beaten-copper pattern on skull radiograph, ventricular dilatation on computed tomography scan, and papilledema was assessed. Papilledema was present in 51% of the patients. No relation between specific clinical symptoms and papilledema was found. The significant associations were complex craniosynostosis, exorbitism, and ventricular dilatation. The prevalence of papilledema in patients with Apert, Crouzon, or Pfeiffer syndrome is high, not only before cranial decompression but also after vault expansion. Annual fundoscopy is recommended to screen for papilledema. We consider that early decompressive surgery (within the first year of age) prevents the development of papilledema and, most likely, elevated intracranial pressure.

The frontosphenoidal suture: fetal development and phenotype of its synostosis.

BACKGROUND: Isolated synostosis of the frontosphenoidal suture is very rare and difficult to diagnose. Little has been reported on the clinical presentation and fetal development of this suture. OBJECTIVE: To understand the development of the frontosphenoidal suture and the outcome of its synostosis. MATERIALS AND METHODS: We studied the normal fetal development of the frontosphenoidal suture in dry human skulls and the clinical features of four patients with isolated synostosis of the frontosphenoidal suture. RESULTS: The frontosphenoidal suture develops relatively late during the second trimester of pregnancy, which explains the mild phenotype when there is synostosis. This rare craniosynostosis results in a deformity that causes recession of the lateral part of the frontal bone and supraorbital rim, with minimal facial asymmetry. Three-dimensional CT is the best examination to confirm the diagnosis. CONCLUSION: Isolated frontosphenoidal synostosis should be considered in patients with unilateral flattening of the forehead at birth that does not improve within the first few months of life.