Long-Term Evaluation of Mandibular Growth in Children With FGFR2 Mutations.

BACKGROUND: Understanding mandibular growth in children with fibroblast growth factor receptor 2 (FGFR2) mutations is important for planning the degree of midface advancement, and for determining the best treatment for obstructive sleep apnea. Yet, relatively little is known about growth of the unoperated mandible in affected children. The purpose of this study was to evaluate mandibular growth through skeletal maturity in Apert, Crouzon, and Pfeiffer syndromes. METHODS: A retrospective chart review was performed. Long-term, unoperated mandibular growth was assessed using multiple anthropologic measurements including: mandibular width, height, depth, and the cranial base width (approximating bicondylar width). Measurements were compared over 3 age intervals: 6 to 7 years, 10 years, and at skeletal maturity (15 years+). RESULTS: Out of 327 treated patients with FGFR2 mutations, 21 were found to have complete mandibular measurements through skeletal maturity (11 Apert, 7 Crouzon, and 3 Pfeiffer). Initial measurements revealed that mandibular height and bigonial breadth were slightly larger than normal, but sagittal depth and cranial base width were deficient. Early growth was slightly accelerated along the vertical and sagittal axes, stable across the bigonial distance, and marked deficient at the cranial base. At skeletal maturity, vertical height and bigonial width remained above average, but mandibular depth (forward sagittal growth) and cranial base width, remained deficient. CONCLUSIONS: Mandibular growth in children with FGFR2 mutations is not normal with impairments found in forward sagittal growth and skull base widening. Knowledge of these deficiencies has significant implications for both planning the degree of midfacial advancements, as well as treating obstructive sleep apnea.

Deformational Plagiocephaly: A Review.

Deformational plagiocephaly (DP) is a common condition and the leading cause of head shape abnormalities in infants. It is characterized by asymmetrical distortion of the skull resulting from external forces on the back of the head. DP has become more prevalent in infants and has increased dramatically since the introduction in 1994 of the "Back to Sleep" campaign. Management of this condition is not often covered by insurance, and can be costly and lengthy; However, DP can be prevented. Early recognition and management can make a significant difference in patients' outcomes and reduce the cost of treatment. Nurses play a key role in recognition and prevention, are instrumental in educating parents and caregivers, and have a significant impact on preventing and reducing the risk of DP. Current systematic approaches to clinical assessment, diagnosis, and management strategies of DP can help nurses who care for infants and their families understand DP and take the necessary steps to prevent it.

Complex craniosynostosis.

BACKGROUND: Complex craniosynostoses (i.e., multisutural, nonsyndromic) are rare and present unique treatment challenges. The authors sought to assess long-term outcomes, including postsurgical growth and development, to develop evidence-based treatment algorithms. METHODS: A retrospective review of all patients identified as having multiple sutural synostosis excluding bicoronal and FGFR- and TWIST-associated synostoses was conducted. Data were summarized using descriptive statistics. RESULTS: Over an 18-year period, 858 patients underwent craniosynostosis correction, and 31 patients (3.6 percent) satisfied inclusion criteria. Average number of affected sutures was 2.9 (lambdoid, 36 percent; sagittal, 31 percent; coronal, 18 percent; metopic, 15 percent), and 1.7 procedures were performed per patient (mean follow-up, 3.5 years). Average hospital stay was 2.3 days, 21 percent required blood transfusions, and there were no major complications. For synostosis patterns isolated to one side of the anterior sagittal suture (anterior or posterior skull halves), 93 percent were corrected with a single procedure. When the synostosis pattern crossed both skull halves, 80 percent underwent two procedures (p<0.001). Forty percent developed acquired Chiari deformations; of these, 60 percent required decompression. The incidence of Chiari deformations increased from 7 percent to 70 percent with lambdoid sutural involvement (p<0.002). Anthropometric data revealed postoperative growth impairment. Gross developmental delays were noted in 20 percent (mild, 16 percent; moderate to severe, 4 percent). CONCLUSIONS: Complex craniosynostoses are associated with a higher incidence of acquired Chiari deformations (especially with lambdoid involvement), require multiple operative procedures, and may have more developmental delays than the isolated single sutural synostoses. The authors recommend surgical paradigms based on sutural involvement, compensatory surgical overcorrection, and routine magnetic resonance imaging monitoring for Chiari deformations. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

An epidemiological study of nonsyndromal craniosynostoses.

OBJECTIVE: To compare our data with recent studies that have suggested a change in the distribution of the forms of nonsyndromal synostosis in the clinical population, we conducted a retrospective analysis of the diagnoses of children with isolated synostosis examined at a large craniofacial center between 1987 and 2009. This also included the range of nonsyndromal multisuture synostoses. DESIGN: A retrospective chart review of all preoperative patients with nonsyndromal synostosis seen between 1987 and 2009 was performed. Only patients with a radiologically confirmed craniosynostosis were included. Data on patients' sex and laterality in unilateral synostoses were collected. Two temporally distinct subgroups (1996-2000 and 2005-2009) were defined to evaluate changes in the distribution of the most common forms of isolated craniosynostosis using the Fisher exact test. RESULTS: A total of 690 patients met the inclusion criteria. The largest group of patients had sagittal synostosis, with metopic synostosis as the second most common diagnosis, representing one-fourth of the patients, followed closely by unilateral coronal synostosis. All other synostoses encompassed one-eighth of the group. Patients with sagittal or metopic synostosis were overwhelmingly male, whereas those with unilateral coronal synostosis were predominantly female. Patients with unilateral synostoses were affected primarily at the right suture. CONCLUSIONS: Data from our patients indicate a much higher incidence of metopic synostosis than has been reported in the traditional clinical literature but is consistent with recent published data. The causes of this are unclear at this point, but the Fisher exact test excludes an increase in the frequency of metopic synostosis. Improved clinical diagnosis or ascertainment bias remains a possibility. Further research is needed to elucidate the answer to this question. Our data also indicate the occurrence of a small number of rare multisuture synostoses of unknown origin.

Preoperative craniofacial dysmorphology in isolated sagittal synostosis: a comprehensive anthropometric evaluation.

Although clinical descriptions of altered calvarial shape in isolated sagittal synostosis abound in the literature, systematic quantitative assessment of the total morphologic pattern of preoperative craniofacial dysmorphology remains limited in this population. To address this deficit, a retrospective study was undertaken of 256 preoperative patients younger than 6 years with isolated sagittal synostosis who were seen at the Dallas Craniofacial Center. Patients were examined using a battery of 23 anthropometric measurements of the head and face, from which 10 proportion indices were calculated. The measurements and proportions for each patient were compared with sex- and age-matched norms and converted to standard (Z) scores. The pooled data for each variable were analyzed using 1-sample t-tests. The patients were then separated into 2 age groups--younger than 6 months (n = 162) and 6 months or older (n = 94)--and compared via 2-sample t-tests to examine age-related differences. To further elucidate craniofacial growth patterns, standardized anthropometric measures were then correlated against age. Results indicated that the head was enlarged and elongated with compensatory transverse growth of the anterior cranial vault and reduction in the height of vertex. The face was enlarged, especially along the sagittal axis. The head and face were significantly larger relative to age in children younger than 6 months and show a general decrease in size relative to age in all dimensions except cranial length. The data indicate a complex pattern of dysmorphology, which involves the entire craniofacial complex, not just the cranial vault.

Mercedes Benz pattern craniosynostosis.

BACKGROUND: The complex craniosynostoses, which include all nonsyndromic multiple sutural fusions, represent a small fraction of patients presenting with craniosynostosis. Among these are a trisutural fusion, dubbed the "Mercedes Benz pattern," involving the sagittal and both lambdoid sutures. The purpose of this report is to review the authors' series of this unusual form of craniosynostosis, to identify associated anomalies, and to assess treatment outcomes. METHODS: The authors conducted a retrospective clinical outcome assessment of all patients presenting with Mercedes Benz pattern craniosynostosis. Growth was assessed by direct anthropologic measurements, and significance was assessed by the t test. RESULTS: Over a 17-year period, 11 of 802 patients presenting with craniosynostosis were identified with Mercedes Benz pattern synostosis (1.4 percent). Three patients had additional sutural involvement and two had identifiable genetic syndromes. Seven of 11 (64 percent) had cerebellar tonsillar herniation on preoperative imaging, and four symptomatic patients (36 percent) have required Chiari decompressions. Three patients have required more than one remodeling procedure. Serial postoperative anthropologic measurements identified progressive brachycephaly, with diminished growth in both head circumference and skull length (mean follow-up, 3.75 years). Cognitive function was grossly normal, except for one syndromic patient. CONCLUSIONS: Despite fusion of the sagittal suture, the surgical treatment for Mercedes Benz pattern craniosynostosis should include skull lengthening, not reduction. The authors' findings for diminished postoperative growth suggest that an overcorrection be considered. Fourth or fifth sutural involvement correlated with additional corrections. Given the observed high incidence for symptomatic cerebellar tonsillar herniation, routine magnetic resonance evaluations are recommended for affected individuals.

Single sutural craniosynostoses: surgical outcomes and long-term growth.

BACKGROUND: This study was designed to examine long-term skull growth following single sutural synostosis corrections and to evaluate surgical outcomes. METHODS: A retrospective outcome assessment of all children treated with a single-stage, open-remodeling procedure for sagittal, metopic, unilateral coronal, and unilateral lambdoid synostosis was performed. Long-term growth was assessed from serial anthropometric measurements taken up to 11 years postoperatively (mean, 4 years). RESULTS: Of 296 consecutive patients, complete records were available for 248 operative procedures. The mean surgical age was 12.3 months (range, 2.5 months to 8 years), with 36 patients older than 12 months. Transfusion rates decreased from 81 to 19 percent following the institution of blood conservation strategies. The average hospitalization was 2.5 days. There was one nonsurgically treated infection (0.4 percent), and no major complications or deaths. Five patients underwent secondary remodeling procedures (2 percent). Serial anthropometric measurements, obtained in 75 patients, showed normalization of cranial indices 6 weeks postoperatively, but subsequent measurements revealed statistically significant diminished growth. Earlier surgical treatment of metopic synostosis (4 months) was associated with significantly more growth inhibition than seen in those treated at an older age (12 months), with the other synostoses showing similar tendencies. CONCLUSIONS: Treatment of single sutural synostosis was extremely safe with very low reoperative rates, but subsequent calvarial growth was abnormal, with a tendency toward recapitulation of the primary deformity. Growth was less diminished in procedures performed in older infants. Surgeons treating single sutural craniosynostosis should consider expanding treatment goals beyond normalization to an overcorrection of the abnormal skull shape.

Sagittal craniosynostosis: surgical outcomes and long-term growth.

BACKGROUND: Numerous publications have examined technique-specific results in treating sagittal synostosis, but there are scant data examining long-term outcomes. This retrospective study was designed to evaluate a large series of surgically repaired children with sagittal craniosynostosis and to examine long-term cranial growth following correction. METHODS: From 1990 to 2003, 132 children with sagittal synostosis were evaluated and 89 surgically treated (single-stage posterior remodeling) patients were retrospectively reviewed (43 were excluded for multisutural involvement, incomplete records, or nonsurgical treatment). Long-term growth was assessed from anthropologic measurements taken from 3 to 11 years postoperatively (mean, 4.7 years). RESULTS: The surgical age ranged from 2 months to 5 years (mean, 8 months), and the hospital stay was less than 3 days. There were no deaths, major complications, infections, or repeated remodeling procedures performed. Postoperatively, the cephalic index was overcorrected. Subsequent growth of the cranial breadth and length was less than predicted. Moreover, growth was more deficient in cranial breadth than length, resulting in a regression of the cephalic index over time (p < 0.01). Frontal breadth improved immediately postoperatively but did not subsequently narrow over time. Head circumference also showed a statistically significant diminished capacity for growth (p < 0.001). CONCLUSIONS: This study demonstrated abnormal skull growth in children following the surgical correction of scaphocephaly. On the basis of these findings, surgeons treating sagittal synostosis may wish to expand their goals of treatment beyond normalization to an overcorrection of the abnormal skull shape.

Three-dimensional surface imaging: limitations and considerations from the anthropometric perspective.

The use of three-dimensional (3D) surface imaging for clinical measurement purposes has increased considerably as the technology has become more affordable. Like any measurement technique, 3D surface-based anthropometry is subject to a number of limitations and methodological caveats and thus should not be applied without sufficient consideration of its potential strengths and weaknesses. In this brief report, the authors consider 3D surface imaging from the anthropometric perspective, specifically focusing on issues related to the capture of reliable quantitative information from the head and face.