Craig B. Birgfeld

Making the Diagnosis: Metopic Ridge Versus Metopic Craniosynostosis

Introduction The metopic suture is the only calvarial suture which normally closes during infancy. Upon closure, a palpable and visible ridge often forms which can be confused with metopic craniosynostosis. Metopic ridging (MR) is treated nonsurgically while metopic craniosynostosis (MCS) is treated surgically. Differentiating between the two is paramount; however, consensus is lacking about where a clear diagnostic threshold lies. The goal of this study is to describe the physical examination and CT scan characteristics which may help to differentiate between physiological closure of the metopic suture with ridging (MR) and MCS. Methods A retrospective chart review of all patients seen at Seattle Children’s Hospital between 2004 and 2009 with the diagnosis of either MCS or MR (n = 282) was performed. Physical examination characteristics described by diagnosing practitioners were analyzed. Clinical photos were assessed by 3 expert raters to determine the importance of these characteristics. CT scan findings were abstracted and compared between the two diagnoses. Results The “classic” triad of narrow forehead, biparietal widening, and hypotelorism was present in only 14% of patients with MCS. Ninety-eight percent of patients in both groups had a palpable metopic ridge. The photographic finding of narrow forehead and pterional constriction was present in all patients with MCS, but only in 11.2% and 2.8% of patients with MR. On CT scan, the presence of 3 or more MCS findings was diagnostic of MCS in 96% of patients. Patients with MCS were more likely to present before 6 months of age (66% vs. 32%). Conclusions Patients with MCS tend to present earlier than those with MR. Upon physical examination, the relationship between the lateral frontal bone and the lateral orbit is important in distinguishing between the two diagnoses. A CT scan can be helpful in making the diagnosis not to confirm a closed suture but to identify 3 or more MCS characteristics.

A phenotypic assessment tool for craniofacial microsomia.

Background: Craniofacial microsomia is one of the most common conditions treated by craniofacial teams. However, research regarding the cause of this condition or the surgical outcomes of treatment is scant. This is attributable to the lack of diagnostic criteria and the wide phenotypic spectrum. Standardized description of the craniofacial malformations associated with craniofacial microsomia is a necessary first step for multicenter, interdisciplinary research into this complex condition. Methods: The authors used the previously published pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue–Plus classification scheme to assign a phenotypic severity score to patients with craniofacial microsomia treated at the Craniofacial Center at Seattle Childrens Hospital. The authors modified the tool based on feedback from multidisciplinary focus groups. The authors also developed a standardized photographic protocol to facilitate assessment of patients using two-dimensional images. Results: Feedback from focus groups was synthesized to create a phenotypic assessment tool for craniofacial microsomia based on the pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue–Plus classification system. This tool allows for more comprehensive description of the phenotype of craniofacial microsomia and is found to be effective for clinical use within a multidisciplinary craniofacial team. In addition, the photographic protocol for patients with craniofacial microsomia allows for classification from a two-dimensional photographic database, thereby facilitating research using archived photographs. Conclusions: The phenotypic assessment tool for craniofacial microsomia protocol provides a simple and standardized method for practitioners and researchers to classify patients with craniofacial microsomia. We anticipate that this tool can be used in multicenter investigational studies to evaluate the cause of this condition, its natural history, and comparative effectiveness research.

Symptom outcomes following cranial vault expansion for craniosynostosis in children older than 2 years.

Background: Most craniosynostosis cases are treated by cranial expansion before 1 year of age. Occasionally, patients present at a later age with nonspecific symptoms of increased intracranial pressure. The purpose of this study was to review the symptoms of patients undergoing late cranial vault expansion. In all cases, the indication for surgery was treatment of the cranial dysmorphology. Methods: The authors performed a retrospective review of all patients (n = 17) undergoing cranial vault expansion from 2000 to 2007 aged older than 2 years (median, 7.4 years) for abnormal head shape who also reported preoperative symptoms consistent with increased intracranial pressure, including headaches, nausea or vomiting, or vision changes. Median follow-up was 30 months; 11 patients had nonsyndromic and six had syndromic craniosynostosis. Results: Fourteen patients had headaches, nine had nausea and vomiting, and 11 had vision changes. Ten patients had signs of intracranial pressure elevation, such as a computed tomographic scan findings, papilledema, or both. Twelve of 14 patients had complete resolution of headaches following surgery and four had late mild recurrence. All patients with nausea and vomiting and nine of 11 patients with vision changes had resolution of symptoms. Conclusions: The diagnosis of increased intracranial pressure in older children with craniosynostosis is difficult in the absence of papilledema or computed tomographic findings. Clinical symptoms frequently associated with increased intracranial pressure are improved with late cranial vault expansion and demonstrate a possible benefit beyond improvement in head shape.

Adopted children with cleft lip and/or palate: a unique and growing population.

Background: Standard clinical pathways are well established for children with cleft lip and/or palate. Treatment of internationally adopted children differs because of the late age at presentation, a newly evolving child-family relationship, and variable extent and quality of previous treatment. Methods: The authors characterized the presentation and treatment patterns of all internationally adopted children with clefts at their institution between 1997 and 2011. Results: Among 1841 children with clefts, 216 (12 percent) were internationally adopted: 78 percent had cleft lip and palate, 18 percent had cleft lip, and 4 percent had cleft palate. Patients originated predominantly from China (80 percent). Median age at presentation was 31 months, and the rate of new presentations increased five-fold during the study period. Eighty-two percent presented with prior cheiloplasty, and revision was recommended for 64 percent of them. Thirty-seven percent of patients had prior palatoplasty, of which 34 percent presented with a palatal fistula. Secondary palatoplasty/pharyngoplasty was performed more frequently for patients who underwent primary palatoplasty before adoption than after adoption (95 percent CI, 0.20 to 0.77). Overall, adoptees required secondary surgery more often than nonadoptees (49 percent versus 28 percent) regardless of where their primary surgery was performed. Changes in adoptee growth indices suggested improvements in systemic health following adoption. Conclusions: Internationally adopted children with clefts have unique treatment challenges. Children with unrepaired clefts undergo surgery late, and children with prior repairs frequently undergo revision. Compared with nonadoptees, adoptees require more revisions and have a higher fistula rate. Further detailed study is important to optimize care.

Duration of exposure to cranial vault surgery: associations with neurodevelopment among children with single-suture craniosynostosis.

Objective:  To evaluate associations between neurodevelopment and exposure to surgery and anesthetic agents in children with single‐suture craniosynostosis (SSC).

Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research.

Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.

Evaluation and integration of disparate classification systems for clefts of the lip

Orofacial clefting is a common birth defect with wide phenotypic variability. Many systems have been developed to classify cleft patterns to facilitate diagnosis, management, surgical treatment, and research. In this review, we examine the rationale for different existing classification schemes and determine their inter-relationships, as well as strengths and deficiencies for subclassification of clefts of the lip. The various systems differ in how they describe and define attributes of cleft lip (CL) phenotypes. Application and analysis of the CL classifications reveal discrepancies that may result in errors when comparing studies that use different systems. These inconsistencies in terminology, variable levels of subclassification, and ambiguity in some descriptions may confound analyses and impede further research aimed at understanding the genetics and etiology of clefts, development of effective treatment options for patients, as well as cross-institutional comparisons of outcome measures. Identification and reconciliation of discrepancies among existing systems is the first step toward creating a common standard to allow for a more explicit interpretation that will ultimately lead to a better understanding of the causes and manifestations of phenotypic variations in clefting.

Photographic protocol for image acquisition in craniofacial microsomia

Craniofacial microsomia (CFM) is a congenital condition associated with orbital, mandibular, ear, nerve, and soft tissue anomalies. We present a standardized, two-dimensional, digital photographic protocol designed to capture the common craniofacial features associated with CFM.

Comparison of Two-Dimensional and Three-Dimensional Images for Phenotypic Assessment of Craniofacial Microsomia

Background and Purpose Three-dimensional surface imaging is used in many craniofacial centers. However, few data exist to indicate whether such systems justify their cost. Craniofacial microsomia is associated with wide phenotypic variability and can affect most facial features. The purpose of this study is to compare three-dimensional versus two-dimensional images for classification of facial features in individuals with craniofacial microsomia. Methods We obtained a series of two-dimensional and three-dimensional images of 50 participants, aged 0-20 years, diagnosed with craniofacial microsomia, microtia, or Goldenhar syndrome. Three clinicians classified the craniofacial features on each image, and ratings were compared by calculating kappa statistics. We also evaluated image quality using a 5-point Likert scale. Results Reliability estimates were high for most features using both two-dimensional and three-dimensional image data. Our three-dimensional protocol did not allow for scoring of facial animation, occlusal cant, or tongue anomalies. Image quality scores for the mandible and soft tissue assessment were higher for three-dimensional images. Raters preferred two-dimensional photographs for assessment of the ear, ear canal, and eyes. Conclusions Both three-dimensional and two-dimensional images provide useful data for objective characterization of the craniofacial features affected in craniofacial microsomia. A series of two-dimensional images has relative advantages for assessment of some specific features, such as the ear, though three-dimensional images may have advantages for quantitative analysis and qualitative assessment of deformities of the jaw and soft tissue. These results should apply to any assessment of these features with or without a craniofacial microsomia diagnosis.

Crowdsourcing as a Novel Method to Evaluate Aesthetic Outcomes of Treatment for Unilateral Cleft Lip

Background: Lack of convenient and reliable methods to grade aesthetic outcomes limits the ability to study results and optimize treatment of unilateral cleft lip. Crowdsourcing methods solicit contributions from a large group to achieve a greater task. The authors hypothesized that crowdsourcing could be used to reliably grade aesthetic outcomes of unilateral cleft lip. Methods: Fifty deidentified photographs of 8- to 10-year-old subjects (46 with unilateral cleft lip and four controls) were assembled. Outcomes were assessed using multiple pairwise comparisons that produced a rank order (Elo rank) of nasal appearance and, on a separate survey, by Asher-McDade ratings. Both surveys were repeated to assess reliability. A group of expert surgeons repeated the same tasks on a smaller subset of photographs. Results: The authors obtained 2500 and 1900 anonymous, layperson evaluations by means of crowdsourcing on each Elo rank and Asher-McDade survey, respectively. Elo rank and Asher-McDade scores were highly reproducible (correlation coefficients, 0.87 and 0.98), and crowd evaluations agreed with those by expert surgeons (0.980 and 0.96 for Elo rank and Asher-McDade score, respectively). Crowdsourcing surveys were completed within 9 hours, whereas the expert surgeons required 3 months. On further analysis of their cleft subject sample set, the authors found that greater initial cleft severity was associated with worse aesthetic outcome. Conclusions: Outcomes assessed by crowds were reliable and correlated well with expert assessments. Crowdsourcing allows acquisition of massive numbers of layperson assessments on an unprecedented scale, and is a convenient, rapid, and reliable means of assessing aesthetic outcome of treatment for unilateral cleft lip. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, IV.