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Children (Basel, Switzerland) Jul 2023Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and...
BACKGROUND
Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and adults from two unrelated families. These children were born with variable clinical manifestations: craniofacial asymmetry, ocular proptosis, floppiness, and progressive deceleration in cognitive development. None of these children underwent a cranial sutures assessment. False diagnoses of positional plagiocephaly, neonatal thyrotoxicosis, congenital muscular atrophy, and hydrocephalus were given to the parents. This sort of malpractice was the reason behind a sequence of devastating pathological events that occurred in the lifetime of these children and adults.
MATERIAL AND METHODS
This was a multigenerational study of two unrelated families. In total, we studied three children (aged 7-19 years) and three adults (aged 40-52 years) from two families. The children from the first family were referred to our departments because of pre-pubertal scoliosis, kyphoscoliosis, and early-onset osteoarthritis. Reading the clinical histories of these children signified apparent clinical misconceptions. For instance, craniofacial asymmetry was misinterpreted as positional plagiocephaly and treated by means of helmet molding therapy. Ocular proptosis was given the false diagnosis of neonatal thyrotoxicosis. Floppiness (hypotonia) was misdiagnosed as congenital muscular dystrophy. The index case from the second family showed progressive deceleration in his cognitive development, associated with signs of increased intracranial pressure. The only diagnosis was Dandy-Walker malformation. We documented every patient in accordance with the clinical and radiological phenotypic characterizations. The genotype characterization followed accordingly.
RESULTS
All patients in family (I) manifested a phenotype consistent to a certain extent with the clinical phenotype of Shprintzen-Goldberg syndrome (SGS), though the intensity of spine deformities was greater than has been described in the literature. The second family showed a constellation of Marfanoid habitus, craniosynostosis, increased intracranial pressure, hydrocephalus, Dandy-Walker malformation, seizures, and intellectual disability. The overall clinical phenotype was consistent but not fully diagnostic of craniosynostosis-Dandy-Walker-malformation hydrocephalus syndrome. The early closure of the sutures was totally different from one patient to another, including the premature closure of the metopic, coronal, squamosal, and sagittal sutures. One patient from family (II) underwent the implementation of a shunt system at the age of 3 years, unfortunately passing over the pre-existing craniosynostosis. In addition to skeletal deformities, a history of seizures and severe intellectual disability was recorded. The proband underwent chromosomal karyotyping, the FISH test, and whole-exome sequencing.
CONCLUSION
The purpose of this study was fivefold. Firstly, to gain a meticulous understanding in order to differentiate between positional plagiocephaly, hypotonia, and congenital exophthalmos and their connections to abnormal craniofacial contours was and still is our first and foremost concern. Secondly, we aimed to characterize craniosynostosis, seizures, intellectual disabilities, and hydrocephalus associated with Marfanoid habitus, which were clearly demonstrated in our patients. Thirdly, we aimed to address the imperative for interpretations of clinical and radiological phenotypes and relate these tools to etiological understanding, which is an essential basis for diagnosis in the majority of long-term pediatric admissions. Fourthly, we aimed to assess the impacts of the missed early closure by the pediatricians and pediatric neurologists, which added a heavy pathological burden on these patients and their families. Fifthly, we aimed to identify whether early and diligent recognition can assist in cranial vault remodeling via surgical intervention to halt premature cranial suture fusions and can possibly alter the devastating course and the complications of the synostosed sutures.
PubMed: 37508737
DOI: 10.3390/children10071240 -
JAMA Network Open Apr 2021The rapid increase of opioid-related overdoses and deaths has become a public health concern in the US. Use of prescription opioids in pregnant women has increased;...
IMPORTANCE
The rapid increase of opioid-related overdoses and deaths has become a public health concern in the US. Use of prescription opioids in pregnant women has increased; results from teratogenicity studies remain controversial.
OBJECTIVE
To evaluate the association between maternal prescription opioid use (excluding opioid use disorders) during pregnancy and the incidence of congenital malformations.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective population-based cohort study evaluated linked Rhode Island Medicaid claims and vital statistics data of live births from January 1, 2008, to December 31, 2016. Data analysis was conducted from May 1, 2019, to May 31, 2020. Women who had a live birth during the study period, but no cancer or opioid use disorder, were followed up from 3 months before pregnancy to the end of pregnancy.
EXPOSURES
Data on the mother's prescription opioid exposure were obtained through pharmacy claims and exposure was defined as dispensing of at least 1 prescription opioid during the first, second, or third trimester.
MAIN OUTCOMES AND MEASURES
The primary outcome was overall major or minor congenital malformations, defined as 1 or more major or minor congenital malformation. Secondary outcomes were defined as 10 specific categories of congenital malformations classified by organ systems using International Classification of Diseases diagnosis codes.
RESULTS
Of 12 424 included pregnancies, 891 mothers (7.2%) received prescription opioids during pregnancy and 3153 infants (25.4%) were diagnosed with major or minor congenital malformations. Comparing prescription opioid exposure vs nonexposure, no excess risk was observed for major birth defects in infants with opioid exposure in trimester 1 (adjusted relative risk [aRR], 1.40; 95% CI, 0.84-2.34), and higher risks were found for overall minor birth defects in trimester 3 (aRR, 1.26; 95% CI, 1.04-1.53) and minor birth defects in the musculoskeletal system in trimester 2 (aRR, 1.50; 95% CI, 1.10-2.03) and trimester 3 (aRR, 1.65; 95% CI, 1.23-2.22). Significant dose responses in selected minor malformations and effects of specific opioids were also identified. Hydrocodone in trimester 2 (aRR, 3.01; 95% CI, 1.80-5.03) and oxycodone in trimester 3 (aRR, 2.43; 95% CI, 1.37-4.02) were associated with plagiocephaly, polydactyly, and other specified congenital deformities of the hip.
CONCLUSIONS AND RELEVANCE
The findings of this study suggest a higher risk of minor congenital malformations associated with use of prenatal prescription opioids in trimester 3, which seems to be dose-dependent. Further investigation is needed to establish causality and explore the physiologic plausibility of the association.
Topics: Adult; Analgesics, Opioid; Case-Control Studies; Causality; Congenital Abnormalities; Dose-Response Relationship, Drug; Female; Humans; Infant, Newborn; Practice Patterns, Physicians'; Pregnancy; Prenatal Exposure Delayed Effects; Retrospective Studies; Young Adult
PubMed: 33847750
DOI: 10.1001/jamanetworkopen.2021.5708 -
The Cleft Palate-craniofacial Journal :... Sep 2022Craniofacial measuring is valuable for diagnosis and evaluation of growth and treatment of positional skull deformities. Plagiocephalometry (PCM) quantifies skull...
OBJECTIVE
Craniofacial measuring is valuable for diagnosis and evaluation of growth and treatment of positional skull deformities. Plagiocephalometry (PCM) quantifies skull deformities and is proven to be reliable and valid. However, PCM needs direct skin contact with thermoplastic material, is laborious and time-consuming. Therefore, Skully Care (SC) was developed to measure positional skull deformities with a smartphone application.
DESIGN
SC is retrospectively compared to PCM.
SETTING
Pediatric physiotherapy centers.
PATIENTS
Age ≤1 year, analyzed or treated for positional skull deformities.
INTERVENTIONS
A total of 60 skull shape analyses were performed.
MAIN OUTCOME MEASURES
The main outcome measures employed are Pearson correlation coefficient between cranial vault asymmetry index (CVAI; in SC) and oblique diameter difference index (ODDI; in PCM) and between cranial index (CI; in SC) and cranial proportional index (CPI; in PCM). Mann-Whitney test determined difference of time consumption between PCM and SC.
RESULTS
High correlation was found between CVAI and ODDI (= 0.849; < .01) in positional plagiocephaly and very high correlation between CI and CPI ( 0.938; < .01) in positional brachycephaly. SC is significantly faster than PCM (< .001).
CONCLUSIONS
SC is valid in analyzing positional skull deformities and strongly correlates to PCM, the gold standard in daily physiotherapy practice. The combination of simplicity, validity, speed, and user and child convenience makes SC a promising craniofacial measuring method in daily practice. SC has potential to be the modern successor for analyzing positional skull deformities.
Topics: Child; Craniosynostoses; Head; Humans; Infant; Plagiocephaly, Nonsynostotic; Retrospective Studies; Skull; Treatment Outcome
PubMed: 34559019
DOI: 10.1177/10556656211035022 -
Indian Pediatrics Apr 2024To estimate the occurrence and severity of deformational plagiocephaly among infants.
OBJECTIVE
To estimate the occurrence and severity of deformational plagiocephaly among infants.
METHODS
A hospital-based, cross-sectional study was done in the pediatric ward of a tertiary care hospital between April 1, 2022 to October 31, 2022. Cranial Vault Asymmetry Index (CVAI) and Argenta Clinical Classification were applied to consecutive infants aged 1 month to 1 year till the calculated sample size was achieved.
RESULTS
67 infants were recruited and the occurrence of deformational plagiocephaly in the sample was estimated to be 46.3%. Level 2 severity of deformational plagiocephaly was the commonest, while as per the Argenta classification, majority belonged to type I (39.2%). Male gender and developmental delay were the significant risk factors for plagiocephaly with an odds ratio (95% CI) of 3.73 (1.23, 11.26) and 19.25 (2.31, 160.3), respectively.
CONCLUSION
A high occurrence of deformational plagiocephaly was found in infants studied. There is a need for more studies to further corroborate these findings and study its associated factors.
Topics: Infant; Child; Humans; Male; Plagiocephaly, Nonsynostotic; Cross-Sectional Studies; Retrospective Studies; Odds Ratio; Risk Factors
PubMed: 38597101
DOI: No ID Found -
European Journal of Pediatrics Oct 2020We present a novel technique for classification of skull deformities due to most common craniosynostosis. We included 5 children of every group of the common...
We present a novel technique for classification of skull deformities due to most common craniosynostosis. We included 5 children of every group of the common craniosynostoses (scaphocephaly, brachycephaly, trigonocephaly, and right- and left-sided anterior plagiocephaly) and additionally 5 controls. Our outline-based classification method is described, using the software programs OsiriX, MeVisLab, and Matlab. These programs were used to identify chosen landmarks (porion and exocanthion), create a base plane and a plane at 4 cm, segment outlines, and plot resulting graphs. We measured repeatability and reproducibility, and mean curves of groups were analyzed. All raters achieved excellent intraclass correlation scores (0.994-1.000) and interclass correlation scores (0.989-1.000) for identifying the external landmarks. Controls, scaphocephaly, trigonocephaly, and brachycephaly all have the peak of the forehead in the middle of the curve (180°). In contrary, in anterior plagiocephaly, the peak is shifted (to the left of graph in right-sided and vice versa). Additionally, controls, scaphocephaly, and trigonocephaly have a high peak of the forehead; scaphocephaly has the lowest troughs; in brachycephaly, the width/frontal peak ratio has the highest value with a low frontal peak.Conclusion: We introduced a preliminary study showing an objective and reproducible methodology using CT scans for the analysis of craniosynostosis and potential application of our method to 3D photogrammetry. What is Known: • Diagnosis of craniosynostosis is relatively simple; however, classification of craniosynostosis is difficult and current techniques are not widely applicable. What is New: • We introduce a novel technique for classification of skull deformities due to craniosynostosis, an objective and reproducible methodology using CT scans resulting in characteristic curves. The method is applicable to all 3D-surface rendering techniques. • Using external landmarks and curve analysis, specific and characteristic curves for every type of craniosynostosis related to the specific skull deformities are found.
Topics: Child; Craniosynostoses; Humans; Infant; Reproducibility of Results; Research Design; Skull; Tomography, X-Ray Computed
PubMed: 32303825
DOI: 10.1007/s00431-020-03643-2 -
Journal of Clinical Medicine Apr 2023We assessed a method for screening the cranial shape of 1-month-old infants using a simple measuring instrument instead of a three-dimensional scanner. The Mimos...
We assessed a method for screening the cranial shape of 1-month-old infants using a simple measuring instrument instead of a three-dimensional scanner. The Mimos craniometer was used to measure cranial length, cranial width, and two diagonal lengths to calculate the cranial index (CI) and cranial asymmetry (CA). We defined a CI > 90% as brachycephaly and CA > 5 mm as deformational plagiocephaly (DP). Intra- and inter-examiner accuracy analyses were performed on a dummy doll and 1-month-old infants. The measurements of healthy 1-month-old infants were compared with previously reported three-dimensional scanner measurements. Intra- and inter-rater measurements showed good accuracy; diagnostic accuracy comparisons of brachycephaly and DP using a three-dimensional scanner showed kappa values of 1.0 and 0.8, respectively. Comparisons were made among 113 infants matched for day-age at the date of measurement; there were no significant differences in the CI (85.0% vs. 85.2%, = 0.98) and CA (5.9 mm vs. 6.0 mm, = 0.48) between the scanner and caliper measurements, nor in the prevalence of brachycephaly (12.4% vs. 17.7%, = 0.35) or DP (58.4% vs. 56.6%, = 0.89). This simple measurement method using calipers and bands was useful in screening for brachycephaly and DP in 1-month-old infants.
PubMed: 37109123
DOI: 10.3390/jcm12082787 -
Scientific Reports Jan 2022Cranial deformation and deformational plagiocephaly (DP) in particular affect an important percentage of infants. The assessment and diagnosis of the deformation are...
Cranial deformation and deformational plagiocephaly (DP) in particular affect an important percentage of infants. The assessment and diagnosis of the deformation are commonly carried by manual measurements that provide low interuser accuracy. Another approach is the use of three-dimensional (3D) models. Nevertheless, in most cases, deformation measurements are carried out manually on the 3D model. It is necessary to develop methodologies for the detection of DP that are automatic, accurate and take profit on the high quantity of information of the 3D models. Spherical harmonics are proposed as a new methodology to identify DP from head 3D models. The ideal fitted ellipsoid for each head is computed and the orthogonal distances between head and ellipsoid are obtained. Finally, the distances are modelled using spherical harmonics. Spherical harmonic coefficients of degree 2 and order - 2 are identified as the correct ones to represent the asymmetry characteristic of DP. The obtained coefficient is compared to other anthropometric deformation indexes, such as Asymmetry Index, Oblique Cranial Length Ratio, Posterior Asymmetry Index and Anterior Asymmetry Index. The coefficient of degree 2 and order - 2 with a maximum degree of 4 is found to provide better results than the commonly computed anthropometric indexes in the detection of DP.
Topics: Algorithms; Case-Control Studies; Cephalometry; Humans; Image Interpretation, Computer-Assisted; Imaging, Three-Dimensional; Models, Anatomic; Patient-Specific Modeling; Photogrammetry; Plagiocephaly, Nonsynostotic; Predictive Value of Tests; Skull
PubMed: 34997100
DOI: 10.1038/s41598-021-04181-z -
Journal of Clinical Medicine Sep 2023(1) Background: Patients with unicoronal craniosynostosis (UCS) often show torticollis which can result from either an ocular cause or contraction of the...
(1) Background: Patients with unicoronal craniosynostosis (UCS) often show torticollis which can result from either an ocular cause or contraction of the sternocleidomastoid muscle. For clinicians, it is crucial to know the prevalence of ocular torticollis (OT) to ensure appropriate referral for treatment. Furthermore, associated ophthalmic features with OT in these patients are scarcely described. The aim of this study was to determine the prevalence of OT in non-syndromic UCS patients and investigate its associated ophthalmic features. (2) Methods: In this descriptive cross-sectional study medical records of non-syndromic UCS patients treated between 1994-2022 in one tertiary care hospital in The Netherlands were retrospectively reviewed. Collected data included: diagnosis and type of torticollis, binocular single vision (BSV), strabismus, ocular motility, alphabetical patterns, refractive error, and amblyopia. Patients were classified as OT, based on their ophthalmic and/or orthoptic diagnosis. Prevalence was determined with the 95% CI using the Clopper-Pearson exact test. Associations between OT and the ophthalmic features were determined using Chi-square or Fishers' exact test and its effect size was calculated using Cramer's V. (3) Results: In total, 146 patients were included, of whom 57 had torticollis. An ocular cause for the torticollis was found in 54 patients. The prevalence of OT was 37% (n = 146; 95% CI [0.292-0.454]). Significant associations were found between OT and strabismus ( < 0.001), ocular motility abnormalities ( < 0.001), alphabetical patterns ( < 0.001), and amblyopia ( = 0.002). BSV ( = 0.277) and refractive error ( = 1.0) were not significantly associated with OT. However, in OT the BSV was relatively poor (42.1%) and more frequently absent (26.3%) compared to the non-torticollis group (7% poor and 16.3% absent). In both groups, excyclotorsion was predominantly present (62.3%). (4) Conclusions: In 95% of cases, torticollis in UCS patients is ocular-related. Overall, one in three patients with UCS have OT. This study emphasizes the importance of a timely referral of all patients with UCS with torticollis to an orthoptist and/or ophthalmologist, specialized in diagnosing and treatment of OT, before considering physiotherapy.
PubMed: 37762999
DOI: 10.3390/jcm12186059 -
The Cleft Palate-craniofacial Journal :... Oct 2023Objective differentiation between unilateral coronal synostosis (UCS) and positional posterior plagiocephaly (PPP) based on 3D photogrammetry according to Utrecht...
OBJECTIVE
Objective differentiation between unilateral coronal synostosis (UCS) and positional posterior plagiocephaly (PPP) based on 3D photogrammetry according to Utrecht Cranial Shape Quantificator (UCSQ).
DESIGN
Retrospective study.
SETTING
Primary craniofacial center.
PATIENTS, PARTICIPANTS
Thirty-two unoperated patients (17 UCS; 15 PPP) (age < 1 year).
INTERVENTIONS
Extraction of variables from sinusoid curves derived using UCSQ: asymmetry ratio forehead and occiput peak, ratio of gradient forehead and occiput peak, location forehead and occiput peak.
MAIN OUTCOME MEASURE(S)
Variables, derived using 3D photogrammetry, were analyzed for differentiation between UCS and PPP.
RESULTS
Frontal peak was shifted to the right side of the head in left-sided UCS (mean -value 207 [192-220]), and right-sided PPP (mean -value 210 [200-216]), and to the left in right-sided UCS (mean -value 161 [156-166]), and left-sided PPP (mean -value 150 [144-154]). Occipital peak was significantly shifted to the right side of the head in left-sided PPP (mean -value 338 [336-340]) and to the left in right-sided PPP (mean -value 23 [14-32]). Mean -value of occipital peak was 9 (354-30) in left- and 2 (350-12) in right-sided UCS. Calculated ratio of gradient of the frontal peak is, in combination with the calculated asymmetry ratio of the frontal peak, a distinctive finding.
CONCLUSIONS
UCSQ objectively captures shape of synostotic and positional plagiocephaly using 3D photogrammetry, we therefore developed a suitable method to objectively differentiate UCS from PPP using radiation-free methods.
Topics: Humans; Infant; Plagiocephaly, Nonsynostotic; Retrospective Studies; Skull; Craniosynostoses; Plagiocephaly; Photogrammetry
PubMed: 35538856
DOI: 10.1177/10556656221100679 -
Scientific Reports May 2022Head development is a surrogate for brain development in infants and is related to neurocognitive outcome. There is only limited knowledge on early extra-uterine head...
Head development is a surrogate for brain development in infants and is related to neurocognitive outcome. There is only limited knowledge on early extra-uterine head shape and size assessment in very preterm infants. Here, 26 very preterm infants with a mean gestational age of 29.1 ± 2.2 weeks and a mean birth weight of 1273.8 ± 427.7 g underwent serial stereophotogrammetric 3D head imaging in weekly intervals from birth to term-equivalent age. The main outcome was the longitudinal assessment of the 'physiological' preterm head development with cephalometric size (head circumference, cranial volume) and shape parameters (cranial index, cranial vault asymmetry index) according to chronological and postmenstrual age (PMA). Potential clinical risk factors for the development of an abnormal low cranial index (dolichocephaly) were analysed. In serial measurements of 26 infants, the estimated head volume (95% confidence interval) increased from 244 (226-263) cm at 28 weeks PMA to 705 (688-721) cm at 40 weeks PMA. Moderate or severe dolichocephaly occurred in 21/26 infants (80.8%). Cranial index decreased over time (72.4%; 70.7-74 95% confidence interval). Brachycephaly and plagiocephaly were uncommon. No risk factors for severe dolichocephaly were identified. Our study shows that early detection of head shape and size anomalies utilizing 3D stereophotogrammetry is feasible and safe even in very preterm infants < 1500 g and/or < 32 weeks. 3D stereophotogrammetry could be used for timely identification of infants at risk for head shape anomalies. No specific risk factors for head shape anomalies were identified, especially not mode and duration of respiratory support.
Topics: Craniosynostoses; Female; Gestational Age; Humans; Infant; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Infant, Very Low Birth Weight; Photogrammetry
PubMed: 35624305
DOI: 10.1038/s41598-022-12887-x