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Journal of Medical Imaging (Bellingham,... Mar 2021: Develop and validate algorithms that can enable a novice user to quantitatively measure the head shape parameters associated with deformational plagiocephaly and...
: Develop and validate algorithms that can enable a novice user to quantitatively measure the head shape parameters associated with deformational plagiocephaly and brachycephaly (DPB) using 2D rendered images. : First, the head contour is extracted semi-automatically using the intelligent scissors method. We then automatically compute two indices used in the clinical determination of the DPB from the head shape parameters: the cranial index (CI) and the cranial vault asymmetry index (CVAI). We also present methods to quantify and compensate for the user variability, including camera angle and distance from the head using 2D rendered images. We compared the results of our technology with ground-truth (GT) measurements from 53 infants with DPB and normal cranial parameters. : The Spearman correlation coefficient between the new 2D rendered method and the 3D GT was 0.94 ( ) and 0.96 ( ) for CI and CVAI, respectively. Different simulated camera angles and distances from the head resulted in variation in CI and CVAI in the range of and units, respectively. The limits of agreement of the Bland-Altman test were reduced from and to and for CI and CVAI, respectively, by combining results from different camera angles and positions in our method. The overall accuracy of the proposed technology for DPB detection was 100%. : The 2D rendered images of the head can be accurately analyzed to assess DPB. Further study on 2D photos taken from human subjects is warranted.
PubMed: 33937438
DOI: 10.1117/1.JMI.8.2.024504 -
Diagnostics (Basel, Switzerland) Jul 2022Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We...
PURPOSE
Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malformation complex in correlation with torticollis via radiographic and tomographic analysis and its connection with a specific syndromic entity.
METHODS
Torticollis has been recognised in six patients (2 boys and 4 girls with an age range of 14-18 years), in addition to a couple of parents manifested persistent backpain. A variable spine malformation complex was the main reason behind torticollis. In addition, some patients manifested plagiocephaly, facial asymmetry and scoliosis/kyphoscoliosis. In some patients, conventional radiographs were of limited value because of the overlapping anatomical structures. Three-dimensional reconstruction CT scanning was the modality of choice, which enlightens the path for the phenotypic characterisation.
RESULTS
A 16-year-old-boy presented with torticollis in correlation with pathologic aberration of the spine cartilaginous stage was analysed via 3DCT scan. Comprehensive clinical and radiological phenotypes were in favour of spondylomegepiphyseal dysplasia. The genotype showed a mutation of the NKX3-2 (BAPX1) gene compatible with the diagnosis of spondylo-meg-epiphyseal-metaphyseal dysplasia. His younger male sibling and parents were heterozygous carriers. In two patients with pseudoachondroplasia syndrome, in which odontoid hypoplasia associated with cervical spine synchondrosis causing life-threatening torticollis, Cartilage oligomeric matrix protein (COMP) gene mutation was identified. MURCS syndrome has been diagnosed in two unrelated girls. Torticollis associated with cervical kyphosis was the major presentation since early childhood. Interestingly, one girl showed omovertebral bones of the lower cervical and upper thoracic spine. Her karyotype manifested a balanced translocation of 46 XX, t (14q; 15q).
CONCLUSION
To detect the underlying etiological diagnosis of torticollis, a skeletal survey was the primary diagnostic tool. Conventional radiographs of the craniocervical junction and spine resulted in confusing readings because of the overlapping anatomical structures. Cranio-cervical malformation complex could have serious neurological deficits, especially for children with indefinite diagnosis of torticollis. The widely used term of congenital muscular torticollis resulted in morbid or mortal consequences. Moreover, some patients received vigorous physical therapy on the bases of muscular torticollis. Sadly speaking, this resulted in grave complications. Understanding the imaging phenotype and the genotype in such patients is the baseline tool for precise and proper management. The value of this paper is to sensitise physicians and orthopaedic surgeons to the necessity of comprehensive clinical and radiological phenotypic characterisations in patients with long term skeletal pathology.
PubMed: 35885576
DOI: 10.3390/diagnostics12071672 -
Paediatrics & Child Health Oct 2011Cranial asymmetry occurring as a result of forces that deform skull shape in the supine position is known as deformational plagiocephaly. The risk of plagiocephaly may...
Cranial asymmetry occurring as a result of forces that deform skull shape in the supine position is known as deformational plagiocephaly. The risk of plagiocephaly may be modified by positioning the baby on alternate days with the head to the right or the left side, and by increasing time spent in the prone position during awake periods. When deformational plagiocephaly is already present, physiotherapy (including positioning equivalent to the preventive positioning, and exercises as needed for torticollis and positional preference) has been shown to be superior to counselling about preventive positioning only. Helmet therapy (moulding therapy) to reduce skull asymmetry has some drawbacks: it is expensive, significantly inconvenient due to the long hours of use per day and associated with skin complications. There is evidence that helmet therapy may increase the initial rate of improvement of asymmetry, but there is no evidence that it improves the final outcome for patients with moderate or severe plagiocephaly.
PubMed: 23024590
DOI: 10.1093/pch/16.8.493 -
Journal of Pediatric Neurosciences Oct 2011Craniostenosis is a common problem in the pediatric neurosurgery departments. The management of this problem is still evolving. Some misconceptions exist regarding this...
Craniostenosis is a common problem in the pediatric neurosurgery departments. The management of this problem is still evolving. Some misconceptions exist regarding this condition particularly regarding the indications for surgery. The author started performing this surgery nearly two decades ago. The experience gained over time as well as the problems encountered are discussed.
PubMed: 22069426
DOI: 10.4103/1817-1745.85705 -
American Family Physician Jun 2004Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity... (Review)
Review
Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity in infants that must be distinguished from the more serious craniosynostosis, which occurs alone or as a syndrome. Examining an infant's head from above can help the physician distinguish true lambdoid synostosis from deformational plagiocephaly. In infants with lambdoid synostosis, the posterior bossing is in the parietal area contralateral to the flat part of the head. Deformational plagiocephaly causes frontal bossing ipsilateral to the flat part of the head. In infants with lambdoid synostosis, the ear is displaced posteriorly toward the fused suture. In infants with deformational plagiocephaly, the ear is displaced anteriorly. Isolated sagittal synostosis is the most common type of craniosynostosis. Of the more than 150 craniosynostosis syndromes, Crouzon's disease and Apert's syndrome account for the majority of cases. The diagnosis of craniosynostosis relies on physical examination, plain radiography, and computed tomography. Untreated progressive craniosynostosis leads to inhibition of brain growth, and an increase in intracranial and intraorbital pressure. Infants should be evaluated as soon as they are diagnosed.
Topics: Cranial Sutures; Craniosynostoses; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Radiography; Skull; Syndrome
PubMed: 15222651
DOI: No ID Found -
Archives of Craniofacial Surgery Apr 2022Deformational plagiocephaly is usually managed conservatively, as it tends to improve over time and with the use of conservative measures. However, before the year 2017...
BACKGROUND
Deformational plagiocephaly is usually managed conservatively, as it tends to improve over time and with the use of conservative measures. However, before the year 2017 we operated on patients with severe plagiocephaly and neurological symptoms at the Helsinki Cleft Palate and Craniofacial Center.
METHODS
Of the 20 infants with severe deformational plagiocephaly and neurological symptoms referred to us between 2014 and 2016, 10 underwent cranioplasty open reshaping of the posterior cranial vault. The parents of the last 10 patients were given information on the natural history of the condition and the patients were followed up with an outpatient protocol. The aim of this study was to gain information on the brain electrophysiology and recovery of patients after total cranial vault reconstruction by measuring the electroencephalogram (EEG) somatosensory evoked potentials (SEP; median nerve).
RESULTS
Of the 10 participants in the operation arm, six had abnormal SEP at least on the affected cerebral hemisphere and all SEPs were recorded as normal when controlled postoperatively. In the follow-up arm, eight out of 10 participants had abnormal SEP at the age of approximately 24 months, and all had normalized SEPs at control visits.
CONCLUSION
Our data suggest that cranioplasty open reshaping of the posterior cranial vault did not affect abnormal SEP-EEG recordings. We have abandoned the operations in deformational plagiocephaly patients due to findings suggesting that expanding cranioplasty is not beneficial for brain function in this patient group.
PubMed: 35526840
DOI: 10.7181/acfs.2022.00157 -
Annals of Physical and Rehabilitation... Apr 2013Evaluate from the literature, the evidence of comparative efficiency of non-surgical treatments (orthotics or head repositioning therapy) in posterior positional... (Review)
Review
OBJECTIVE
Evaluate from the literature, the evidence of comparative efficiency of non-surgical treatments (orthotics or head repositioning therapy) in posterior positional plagiocephaly.
MATERIAL AND METHODS
Systematic review from scientific articles (original cohort studies and review of literature), published in French or in English, searched on five online literature data bases, comparing non-chirurgical treatments (repositioning and orthotics therapy) for deformational plagiocephaly. A standardized method guidelines (Critical Review Form-Quantitative Studies) has been used.
RESULTS
Only 11 cohort studies met the inclusion criteria and six reviews of literature were analyzed. Many biases have been identified, most of the time, favoring the repositioning groups (older infants and plagiocephaly more severe).
CONCLUSIONS
Several different orthotics seem to correct head deformities better and faster than repositioning protocols. Evaluation methods, treatment indications and long-term efficacy should be clarified. Studies about treatment risks are warranted.
Topics: Humans; Orthotic Devices; Plagiocephaly, Nonsynostotic; Posture
PubMed: 23433755
DOI: 10.1016/j.rehab.2012.12.005 -
Journal of Clinical Medicine Dec 2020The dissertation, comprising a clinical intervention and three supporting studies, aimed to assess if it is possible to prevent nonsynostotic plagiocephaly while... (Review)
Review
The dissertation, comprising a clinical intervention and three supporting studies, aimed to assess if it is possible to prevent nonsynostotic plagiocephaly while promoting safe infant sleeping practices. Five individuals were trained to assess cranial asymmetry and then reliability-tested; the interpreted results indicate substantial strength of rater-agreement. Intervention participants were allocated to group. Only intervention group nurses participated in the continuing education on plagiocephaly developed for nurses. A survey compared information intervention and control group parents received from nurses; intervention group parents were significantly more aware of recommendations than the controls. Nurse education was evaluated by asking intervention and control group nurses and parents two open-ended questions; the intervention group reported new re-positioning strategies. The effect of the intervention on cranial shape was evaluated by assessing asymmetry at 2, 4, and 12 months (176 intervention group; 92 controls). It was nine times more common that cranial asymmetry at two months reversed by four months when parents were aware of written recommendations from their nurse (OR = 9.09 [0.02; 0.48], = 0.004) when adjusted for group. An infant's risk of asymmetry persisting until 12 months was significantly reduced in the intervention group (RR = 0.35 [0.13; 0.94], = 0.03). Preventing brachycephaly was difficult. Conclusions: the assessors were considered reliable; educating nurses promoted the integration of new recommendations in practice; the intervention was associated with early reversal of nonsynostotic plagiocephaly.
PubMed: 33291382
DOI: 10.3390/jcm9123946 -
BMC Pediatrics Jan 2021Positional head deformity (PHD) is defined as a change in the shape of an infant's skull due to an external force. In certain cases, it can lead to cosmetic deformities...
BACKGROUND
Positional head deformity (PHD) is defined as a change in the shape of an infant's skull due to an external force. In certain cases, it can lead to cosmetic deformities or even neurological issues due to its impact on the developing nervous system. Therefore, we conducted this study to investigate the incidence and characteristics of PHD in term infants in China and preliminarily establish a localized diagnostic reference standard.
METHODS
Overall, 4456 term infants from three medical institutions in Chongqing were and divided and analyzed according to their age. Cranial vault asymmetry (CVA) and cephalic index (CI) were calculated in all infants. The current international diagnostic criteria were used to understand PHD incidence and analyze the CVA and CI distribution.
RESULTS
According to the current international standards, the total detection rate of PHD in Chongqing's term infants was 81.5%, with brachycephaly alone being the most frequent (39.4%), followed by brachycephaly with plagiocephaly (34.8%) and plagiocephaly alone (6.2%). The detection rates of dolichocephaly were low: alone, 0.9% and combined with plagiocephaly, 0.2%. According to age, plagiocephaly (44.5%) and brachycephaly (82.0%) were the most frequent in the 2-3-month group. The 75th/90th/97th and 3rd/10th/25th/75th/90th/97th percentiles of CVA and CIs were 0.4/0.7/1.0 and 76.4/78.8/82.3/91.1/94.6/99.2%, respectively.
CONCLUSIONS
According to the current international standards, the PHD detection rate among term infants in Chongqing was high. Therefore, a new diagnostic standard for Chinese infants was proposed where CVA ≥ 0.4 cm indicates plagiocephaly, CI ≥ 91% indicates brachycephaly, and CI ≤ 82% indicates dolichocephaly.
Topics: China; Craniosynostoses; Humans; Incidence; Infant; Plagiocephaly; Skull
PubMed: 33468075
DOI: 10.1186/s12887-020-02374-5 -
Diagnostics (Basel, Switzerland) Sep 2022A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted...
A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice. Primarily, all received variable false diagnoses in other institutes. Two unrelated boys of one month and 12 months were falsely diagnosed as having positional plagiocephaly associated with contractures of idiopathic origin. Two unrelated boys of 14 months and 2 years were diagnosed with pseudo-hydrocephalus and non-specific syndrome, and were referred to explore their skeletal development. Two unrelated girls of 4 years old and 12 years old presented with multiple contractures were referred because of progressive scoliosis. A 4-year-old girl was referred with a false provisional diagnosis of facial diplegia. All children underwent detailed clinical, radiological and tomographic phenotypic characterizations and genetic testing, respectively. Idaho syndrome (craniosynostosis associated with multiple dislocations) was the final diagnosis in the two unrelated boys with plagiocephaly and multiple contractures. Two children falsely diagnosed with pseudo-hydrocephalus and non-specific syndrome, were diagnosed with Silver-Russell syndrome (RSS). Contractural arachnodactyly Beals (CAB) was confirmed as the definitive diagnosis in the two unrelated girls with progressive scoliosis and multiple contractures. Parry-Romberg syndrome (PRS) associated with congenital lumbar kyphosis was the final diagnosis of the girl with the diagnosis of facial diplegia. Hypomethylation of ICR1 was confirmed in the RSS patients. Whole exome sequencing (WES) revealed a heterozygous mutation in the PRS patients. WES and array-CGH showed that no relevant variants or copy number variations (CNV) were identified in the CAB patients. On the one hand, newborn children can manifest diverse forms of abnormal craniofacial features, which are usually associated with either major or minor dysmorphic stigmata. A cleft lip/ palate is a major craniofacial malformation, and frontal bossing or a disproportionate craniofacial contour can be falsely considered as a transient plagiocephaly, which is spontaneously resolved by time. On the other hand, many physicians fall into the problem of deeming a countless number of diseases, such as contractures, as an idiopathic or non-specific syndrome. The latter stems from limited clinical experience. Therefore, failing to establish between the onset of the deformity and other inexplicit abnormal features that the patient or their immediate families or relatives carry is the final outcome. In this study, we used, for the first time, a reconstruction CT scan to further delineate the congenital disruption of the craniofacial anatomy and the other skeletal malformation complex.
PubMed: 36292064
DOI: 10.3390/diagnostics12102375