Craniofacial anthropometry using the 3dMDface System is valid and reliable. Digital measurements of upper prolabial width may require direct marking, prior to imaging, to improve landmark identification.

Both medications show similar efficacy for reducing the area of symptomatic, proliferating IH. Although prednisolone showed a faster response rate, propranolol was better tolerated with significantly fewer severe AEs. Propranolol should be the first line of therapy for symptomatic IH unless contraindicated or unless future studies demonstrate severe AEs from propranolol. Recruiting participants for a phase 3 RCT would be difficult owing to safety profiles measured here and emerging trends favoring propranolol. TRIAL REGISTRATION clinicaltrials.gov Identifier: NCT00967226.

In this experience of contemporary open craniosynostosis surgery, rates of morbidity, mortality, and reoperation were low. These results support the merits of surgical delay, targeting an age of 6 months or older, and may serve as a more accurate metric of comparison to current minimally invasive techniques for craniosynostosis repair.

Diagnostic, IV.

The incidence of torticollis/sternocleidomastoid imbalance in deformational plagiocephaly is underreported. Because this condition improves rapidly during early infancy, the findings may be subtle and evidenced only by a history of preferential head rotation. The major cause of deformational plagiocephaly is limited head mobility in early infancy secondary to cervical imbalance.

Twenty-four patients with surgical section of the accessory nerve and/or its cervical contribution(s) were examined from 1 to 156 months after surgery, and compared to twenty controls. Thirteen patients had a classical neck dissection; seven had the whole length of the accessory nerve preserved but not the cervical plexus contributions. Four had the upper half of the accessory nerve sectioned, but with preservation of both the lower half and its cervical contributions. Clinical and electrophysiological studies of the three portions of the trapezius suggested the existence of an undescribed motor nerve supply to the trapezius and of a motor input from the cervical plexus contributions via the accessory nerve. The former is also supported by an anatomical study.

BackgroundChromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis.AimTo further delineate the features of the 15q24 microdeletion syndrome, the clinical and molecular characterisation of fifteen patients with deletions in the 15q24 region was performed, nearly doubling the number of reported patients.MethodsBreakpoints were characterised using a custom, high-density array comparative hybridisation platform, and detailed phenotype information was collected for each patient.ResultsNine distinct deletions with different breakpoints ranging in size from 266 kb to 3.75 Mb were identified. The majority of breakpoints lie within segmental duplication (SD) blocks. Low sequence identity and large intervals of unique sequence between SD blocks likely contribute to the rarity of 15q24 deletions, which occur 8–10 times less frequently than 1q21 or 15q13 microdeletions in our series. Two small, atypical deletions were identified within the region that help delineate the critical region for the core phenotype in the 15q24 microdeletion syndrome.ConclusionThe molecular characterisation of these patients suggests that the core cognitive features of the 15q24 microdeletion syndrome, including developmental delays and severe speech problems, are largely due to deletion of genes in a 1.1–Mb critical region. However, genes just distal to the critical region also play an important role in cognition and in the development of characteristic facial features associated with 15q24 deletions. Clearly, deletions in the 15q24 region are variable in size and extent. Knowledge of the breakpoints and size of deletion combined with the natural history and medical problems of our patients provide insights that will inform management guidelines. Based on common phenotypic features, all patients with 15q24 microdeletions should receive a thorough neurodevelopmental evaluation, physical, occupational and speech therapies, and regular audiologic and ophthalmologic screening.

Background: Evaluation of surgical treatment for craniosynostosis is typically based on subjective visual assessment or simple clinical metrics of cranial shape that are prone to interobserver variability. Three-dimensional photography provides cheap and noninvasive information to assess surgical outcomes, but there are no clinical tools to analyze it. The authors aim to objectively and automatically quantify head shape from three-dimensional photography. Methods: The authors present an automatic method to quantify intuitive metrics of local head shape from three-dimensional photography using a normative statistical head shape model built from 201 subjects. The authors use these metrics together with a machine learning classifier to distinguish between patients with (n = 266) and without (n = 201) craniosynostosis (aged 0 to 6 years). The authors also use their algorithms to quantify objectively local surgical head shape improvements on 18 patients with presurgical and postsurgical three-dimensional photographs. Results: The authors’ methods detected craniosynostosis automatically with 94.74 percent sensitivity and 96.02 percent specificity. Within the data set of patients with craniosynostosis, the authors identified correctly the fused sutures with 99.51 percent sensitivity and 99.13 percent specificity. When the authors compared quantitatively the presurgical and postsurgical head shapes of patients with craniosynostosis, they obtained a significant reduction of head shape abnormalities (p < 0.05), in agreement with the treatment approach and the clinical observations. Conclusions: Quantitative head shape analysis and three-dimensional photography provide an accurate and objective tool to screen for head shape abnormalities at low cost and avoiding imaging with radiation and/or sedation. The authors’ automatic quantitative framework allows for the evaluation of surgical outcomes and has the potential to detect relapses. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, I.