Extraocular muscle positions in anterior plagiocephaly: V-pattern strabismus explained using geometric mophometrics.

INTRODUCTION: Ophthalmological involvement in anterior plagiocephaly (AP) due to unicoronal synostosis (UCS) raises management challenges. Two abnormalities of the extraocular muscles (EOM) are commonly reported in UCS without objective quantification: (1) excyclorotation of the eye and (2) malposition of the trochlea of the superior oblique muscle. Here we aimed to assess the positions of the EOM in AP, using geometric morphometrics based on MRI data. MATERIALS AND METHODS: Patient files were listed using Dr WareHouse, a dedicated big data search engine. We included all patients with AP managed between 2013 and 2018, with an available digital preoperative MRI. MRIs from age-matched controls without craniofacial conditions were also included. We defined 13 orbital and skull base landmarks in order to model the 3D position of the EOM. Cephalometric analyses and geometric morphometrics with Procrustes superimposition and principal component analysis were used with the aim of defining specific EOM anomalies in UCS. RESULTS: We included 15 preoperative and 7 postoperative MRIs from patients with UCS and 24 MRIs from age-matched controls. Cephalometric analyses, Procrustes superimposition and distance computations showed a significant shape difference for the position of the trochlea of the superior oblique muscle and an excyclorotation of the EOM. CONCLUSIONS: Our results confirm that UCS-associated anomalies of the superior oblique muscle function are associated with malposition of its trochlea in the roof of the orbit. This clinical anomaly supports the importance of MRI imaging in the surgical management of strabismus in patients with UCS.

Head shape at age 36 months among children with and without a history of positional skull deformation.

OBJECTIVE In this study, the authors examined head shape through age 36 months for children with and without a history of positional plagiocephaly and/or brachycephaly (PPB). METHODS Infants with PPB (cases) were identified through a craniofacial clinic at the time of diagnosis. Infants without diagnosed PPB were identified through a participant registry. Clinician ratings of 3D cranial images were used to confirm the presence or absence of PPB. The cohort included 235 case infants (diagnosed PPB, confirmed with 3D imaging), 167 unaffected controls (no diagnosed PPB, no deformation detected), and 70 affected controls (no diagnosed PPB, discernible skull deformation). Participants were seen in infancy (age 7 months, on average) and again at ages 18 and 36 months. At each visit, automated 3D measures of skull deformation quantified posterior flattening and generated an absolute asymmetry score. The authors also used automated 2D measures to approximate overall asymmetry (approximate oblique cranial length ratio) and calculate the cephalic index. They used linear regression to compare cases to unaffected controls and to compare affected versus unaffected controls on all measures. They also calculated the proportion of children in each group with "persistent PPB," defined as one or more head shape measures above the 95th percentile relative to unaffected controls at 36 months. RESULTS Head shape became more rounded and symmetric for children with and without PPB, particularly between infancy and age 18 months. However, children with PPB continued to show greater skull deformation and asymmetry than unaffected controls at age 36 months. These differences were large in magnitude, ranging from 1 to 2 standard deviations (SDs), and in most (85.6%) of the cases, there was evidence of persistent PPB at 36 months. Similarly, although differences were more modest (i.e., 0.26-0.94 SD), affected controls continued to exhibit skull deformation on most measures relative to unaffected controls and approximately 30% had persistent PPB. Within the case group, head shape at 36 months was similar for untreated patients with PPB and for those who received helmet treatment and for patients with and without a history of torticollis. CONCLUSIONS Although head shape continues to improve, children with a history of skull deformation in infancy continue to exhibit measureable cranial flattening and asymmetry through age 36 months.

Outcome analysis after helmet therapy using 3D photogrammetry in patients with deformational plagiocephaly: the role of root mean square.

Deformational plagiocephaly (DP) is a multifactorial non-synostotic cranial deformity with a reported incidence as high as 1 in 7 infants in North America. Treatment options have focused on non-operative interventions including head repositioning and the use of an orthotic helmet device. Previous studies have used linear and two dimensional outcome measures to assess changes in cranial symmetry after helmet therapy. Our objective was to demonstrate improvement in head shape after treatment with a cranial molding helmet by using Root Mean Square (RMS), a measure unique to 3D photogrammetry, which takes into account both changes in volume and shape over time. Three dimensional photographs were obtained before and after molding helmet treatment in 40 infants (4-10 months old) with deformational plagiocephaly. Anatomical reference planes and measurements were recorded using the 3dMD Vultus(®) analysis software. RMS was used to quantify symmetry by superimposing left and right quadrants and calculating the mean value of aggregate distances between surfaces. Over 95% of the patients demonstrated an improvement in symmetry with helmet therapy. Furthermore, when the sample of infants was divided into two treatment subgroups, a statistically significant correlation was found between the age at the beginning of treatment and the change in the RMS value. When helmet therapy was started before 7 months of age a greater improvement in symmetry was seen. This work represents application of the technique of RMS analysis to demonstrate the efficacy of treatment of deformational plagiocephaly with a cranial molding helmet.

Orthotic (helmet) therapy in the treatment of plagiocephaly.

OBJECT: The goal of this study was to review the current literature on orthotic (helmet) therapy use in the treatment of deformational plagiocephaly. METHODS: PubMed was used to search English articles using the medical subject headings "deformational plagiocephaly" and "orthosis," and "deformational plagiocephaly" and "helmet." RESULTS: Forty-two articles were found. There were no Class I studies, 7 Class II studies, 1 Class III study, and 13 Class IV studies. Cranial orthoses have been shown to be effective in treating deformational plagiocephaly. It continues to be debated as to whether the statistical significance of treatment with cranial orthoses compared with conservative therapies is clinically significant. Children older than 12 months of age with deformational plagiocephaly may still benefit from orthotic therapy. The long-term effects of orthotic therapy are controversial. CONCLUSIONS: There is a lack of Class I literature evidence supporting the use of helmet therapy in deformational plagiocephaly. There are controversies surrounding the use of orthotic therapy such as appropriate use, cost, use in older children, and long-term outcomes. Clinical indications for orthotic therapy need to be better defined with further research studies.

Longitudinal, three-dimensional analysis of head shape in children with and without deformational plagiocephaly or brachycephaly.

OBJECTIVES: To assess 3-dimensional (3D) changes in head shape in infancy and at age 18 months in children with and without plagiocephaly or brachycephaly. STUDY DESIGN: Using a longitudinal design, we evaluated head shape using 3D surface imaging. We compared the head shapes of children with (1) diagnosed deformational plagiocephaly or brachycephaly (cases; n=233); (2) unaffected controls, with no evidence of dysmorphology (n=167); and (3) affected controls, who despite having no previous diagnosis demonstrated skull dysmorphology on 3D surface imaging (n=70). RESULTS: Cases had greater skull flattening and asymmetry than unaffected controls at both time points, as did controls with skull dysmorphology. In all groups, head shapes became less flat and more symmetric over time. Among cases, symmetry improved slightly more for those who received orthotic treatment. CONCLUSIONS: Although head shape improves over time for children with deformational plagiocephaly or brachycephaly, skull dysmorphology persists relative to unaffected controls. Further research is needed to clarify the extent to which these differences are detectable to clinicians and lay observers.

The inter-rater and intra-rater reliability of a modified "severity scale for assessment of plagiocephaly" among physical therapists.

Infants with congenital muscular torticollis (CMT) are at risk of developing skull asymmetry. The aim of this study was to investigate the inter-rater and intra-rater reliability of a modified "severity scale for assessment of plagiocephaly" among physical therapists (PT). Thirty-nine members of a network of PTs working with infants with CMT participated in the study. Photos of infants were used in this study. They were taken from above (superior view) to estimate posterior flattening and forehead asymmetry, and from the front (anterior view) to estimate neck involvement and facial asymmetry. The photos were coded and sent to the PTs together with instructions and a protocol for estimation. A second estimate was carried out with the same photos in a different order. The PTs also answered questions concerning their experience of CMT and the scale used. The participants had worked as PTs for an average of 20 years, and with CMT for an average of 7 years. The inter-rater reliability kappa was 0.71, and the intra-rater reliability was mean 0.68. Intra-rater reliability was significantly higher for years of experience and for years working with CMT. There was no significant impact on reliability in relation to how many infants the PTs usually examine yearly, whether they found the scale easy to use, or how much experience they had using it. In conclusion, the modified "severity scale for assessment of plagiocephaly" has satisfying statistical agreement. Reliability is affected by the number of years of experience of the PTs.

Reconstruction of unicoronal plagiocephaly with a hypercorrection surgical technique.

OBJECT Successful surgical repair of unicoronal plagiocephaly remains a challenge for craniofacial surgeons. Many of the surgical techniques directed at correcting the stigmata associated with this craniofacial deformity (for example, ipsilateral supraorbital rim elevation [vertical dystopia], ipsilateral temporal constriction, C-shaped deformity of the face, and so on) are not long lasting and often result in deficient correction and the need for secondary revision surgery. The authors posit that the cause of this relapse was intrinsic deficiencies of the current surgical techniques. The aim of this study was to determine if correction of unilateral coronal plagiocephaly with a novel hypercorrection surgical technique could prevent the relapse of the characteristics associated with unicoronal plagiocephaly. METHODS The authors performed a retrospective analysis of 40 consecutive patients who underwent surgical repair of unicoronal plagiocephaly at their institution between 1999 and 2009. In all cases, the senior author (S.R.B.) used a hypercorrection technique for surgical reconstruction. Hypercorrection consisted of significant overcorrection of the affected ipsilateral frontal and anterior temporal areas in the sagittal and coronal planes. Demographic, perioperative, and follow-up data were collected for comparison. The postsurgical appearance of the forehead was documented clinically and photographically and then evaluated and scored by 2 independent graders using the expanded Whitaker scoring system. A relapse was defined as a recurrence of preoperative features that required secondary surgical correction. RESULTS The mean age of the patients at the time of the operation was 13 months (range 8-28 months). The mean follow-up duration was 57 months (range 3 months to 9.8 years). The postsurgical hypercorrection appearance persisted on average 6-8 months but gradually dissipated and normalized. No patients exhibited a relapse of unicoronal plagiocephalic characteristics that required surgical correction. In all cases the aesthetic results were excellent. Only 3 patients required reoperation for the management of persistent calvarial bone defects (2 cases) and removal of a symptomatic granuloma (1 case). CONCLUSIONS Our study demonstrates that patients who undergo unicoronal plagiocephaly repair with a hypercorrection surgical technique avoid long-term relapse. Our results suggest that the surgical technique used in the correction of unilateral coronal synostosis is strongly associated with the prevention of postsurgical relapse and that the use of this novel method decreases the need for surgical revision.

Occlusal alterations in unilateral coronal craniosynostosis.

There are few studies on maxillomandibular skeletal alterations. Twenty-one patients with unilateral coronal craniosynostosis were analysed and compared with controls. Landmarks analysed were: sella-nasion-point A and B angles, point A-nasion-point B angle, interincisal angle, angle of superior incisor axis on the sella-nasion plane, lower incisor to mandibular plane angle, Frankfort mandibular plane angle, zygomatic-frontal suture (Z), point on the most concave part of pyramidal apophysis of the upper maxilla (Mx), antegonial incisure (AG), upper (UMT) and lower (LMT) molar teeth. Differences were significant for class II dentoskeletal occlusion (p<0.0001), mandibular hyperdivergence (p<0.0001), lingualization of superior incisor (p<0.005), deviation of inferior interincisal contralateral line to the synostosis (p<0.0001) in the plagiocephalic population. Compared with contralateral counterpoints, Z (p<0.05), Mx (p<0.005) and UMT (p<0.0005) on the affected side were closer to the midline; AG (p<0.0005) and LMT (p<0.05) were further from it. On the frontal plane, Z, Mx, UMT, LMT and AG on the affected side were higher. Vertical and transversal contraction of the jaw of the synostotic side and laterodeviation of the mandibular interincisal line of the contralateral synostotic were clear. The altered position of the glenoid cavity, anteriorized in unilateral coronal craniosynostosis, could be the cause of mandibular dentoskeletal asymmetry.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.

We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition.