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Pediatric Neurosurgery 2022Craniosynostosis is a condition characterized by the premature fusion of 2 or more skull bones. Craniosynostosis of the lambdoid suture is one of the rarest forms,...
BACKGROUND
Craniosynostosis is a condition characterized by the premature fusion of 2 or more skull bones. Craniosynostosis of the lambdoid suture is one of the rarest forms, accounting for 1-4% of all craniosynostoses. Documented cases are separated into simple (single suture), complex (bilateral), and associated with adjacent synostoses ("Mercedes Benz" Pattern) or syndromes (i.e., Crouzon, Sathre-Chotzen, Antley-Bixler). This condition can manifest phenotypic deformities and neurological sequelae that can lead to impaired cognitive function if improperly treated or left undiagnosed. Preferred surgical techniques have varied over time but all maintain the common goals of establishing proper head shape and preventing of complications that could contribute to aforementioned sequelae.
SUMMARY
This comprehensive review highlights demographic distributions, embryological development, pathogenesis, clinical presentation, neurological sequelae, radiologic findings, surgical techniques, surgical outcomes, and postoperative considerations of patients with lambdoid craniosynostosis presentation. In addition, a systematic review was conducted to explore the operative management of lambdoid craniosynostosis using PubMed, Embase, and Scopus databases, with 38 articles included after screening. Key Messages: Due to a low volume of published cases, diagnosis and treatment can vary. Large overlap in presentation can occur in patients that display lambdoid craniosynostosis and posterior plagiocephaly, furthering the need for comprehensive analysis. Possessing the knowledge and tools to properly assess patients with lambdoid craniosynostosis will allow for more precise care and improved outcomes.
Topics: Cranial Sutures; Craniosynostoses; Humans; Infant; Neurosurgical Procedures; Plagiocephaly; Skull
PubMed: 34864743
DOI: 10.1159/000519175 -
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 -
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 -
Archives of Pediatrics & Adolescent... Jul 2011To determine whether the heightened risk of developmental delays seen in infancy in patients with deformational plagiocephaly (DP) continues into the toddler years.
OBJECTIVE
To determine whether the heightened risk of developmental delays seen in infancy in patients with deformational plagiocephaly (DP) continues into the toddler years.
DESIGN
Longitudinal study comparing the development of children with and without DP, with assessments in infancy (mean age, 7 months) and at age 18 months.
SETTING
Infants with DP were recruited from a large craniofacial center, and unaffected infants were recruited from a research registry.
PARTICIPANTS
The study included 227 children with DP and 232 children without previously diagnosed DP.
MAIN EXPOSURE
Diagnosis of DP by a craniofacial specialist.
MAIN OUTCOME MEASURES
Bayley Scales of Infant and Toddler Development, Third Edition, scores.
RESULTS
Toddlers with DP scored lower than did unaffected children on all the scales of the Bayley Scales of Infant and Toddler Development, Third Edition. Motor score differences were smaller and cognitive and language score differences were greater than those observed in infancy.
CONCLUSIONS
Toddlers with DP continue to exhibit evidence of developmental delays relative to toddlers without DP. These findings do not necessarily imply a causal relationship between DP and development because children with delays may be more likely to develop DP. Nonetheless, it seems that increased developmental surveillance is warranted in this population.
Topics: Developmental Disabilities; Female; Humans; Imaging, Three-Dimensional; Infant; Linear Models; Longitudinal Studies; Male; Plagiocephaly, Nonsynostotic; Risk Factors; Severity of Illness Index
PubMed: 21727278
DOI: 10.1001/archpediatrics.2011.92 -
Global Pediatric Health 2018Deformation of the cranium in infancy represents a spectrum of deformity, ranging from severe asymmetric yet proportional distortion of the skull in plagiocephaly, to...
Deformation of the cranium in infancy represents a spectrum of deformity, ranging from severe asymmetric yet proportional distortion of the skull in plagiocephaly, to nearly symmetric yet disproportional distortion in brachycephaly. As such, the condition is best described as with isolated plagiocephaly and/or isolated brachycephaly being at either ends of the spectrum. Due to its symmetric appearance, deformational brachycephaly is often incorrectly dismissed as being less concerning, and it has sometimes erroneously been reported that brachycephaly cannot be treated successfully with a cranial orthosis. We prospectively report on 4205 infants with isolated deformational brachycephaly treated with a cranial orthosis from 2013 to 2017. These results demonstrate that the orthosis is successful in the treatment of deformational brachycephaly with an 81.4% improvement toward normal (95.0 to 89.4) in cephalic index. We furthermore demonstrate that entrance age influences treatment results, with younger infants demonstrating both improved outcomes and shorter treatment times.
PubMed: 30349871
DOI: 10.1177/2333794X18805618 -
Evolution, Medicine, and Public Health 2018Lay Summary: In industrialized societies some babies develop flattening of the back part of their head. It is thought that this comes from sleeping supine, which has... (Review)
Review
Lay Summary: In industrialized societies some babies develop flattening of the back part of their head. It is thought that this comes from sleeping supine, which has been shown to be the safest option for babies. However, this explanation cannot be correct from an evolutionary standpoint: why should safe sleep come at the cost of a misshaped head? Babies in industrialized societies are generally healthy. The medical problems they may be afflicted with are usually well understood. Deformational plagiocephaly presents a notable exception. In many industrialized countries, one in six babies shows posterior flattening of the skull-a feature noteworthy from an evolutionary perspective as the well rounded cranium is part of the 'Kindchenschema' evolved to secure care for the infant. It is commonly held that the deformation of the posterior cranium occurs as a consequence of the supine sleep position, now advocated as the safest sleep position for babies by medical experts. This explanation, however, does not fare well in the light of evolutionary theory: why should safe sleep come at the cost of a social handicap? Here, we present an alternative hypothesis that is grounded on evolutionary mismatch theory and exemplifies how evolutionary reasoning can help clarify medical conditions relevant to today's public health.
PubMed: 30151193
DOI: 10.1093/emph/eoy019 -
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 -
Andes Pediatrica : Revista Chilena de... Jun 2023Prematurity is a risk factor for positional cranial deformities since preterm infants have a more malleable skull and are susceptible to deformities due to external...
UNLABELLED
Prematurity is a risk factor for positional cranial deformities since preterm infants have a more malleable skull and are susceptible to deformities due to external pressures.
OBJECTIVES
To describe positional cranial deformities and peri/postnatal pathologies in preterm infants and to analyze the association between gestational age, birth weight, length of hospitalization, and severity of cranial deformities measured by the Cranial Vault Asymmetry Index (CVAI) and the Cephalic Index (CI).
PATIENTS AND METHOD
Analytic, cross-sectional study. 103 preterm infants aged under 4 months of corrected age admitted during 2017 to an Early Intervention Program (EIP) were included. Participants were classified according to gestational age as follows: extremely preterm (< 28 weeks), very preterm (28-32 weeks), and moderate-to-late preterm (32-37 weeks). Head circumference, anteroposterior diameter, width, and head diagonals were measured, and the CVAI and CI were calculated. Peri- and postnatal history was obtained from clinical records.
RESULTS
103 preterm infants were evaluated (17 extremely preterm, 78 very preterm, and 8 moderate-to-late preterm). 99 (96.1%) of the preterm infants had positional cranial deformity and, regardless of the degree of prematurity, presented similar cranial anthropometric measurements. Mild plagiocephaly was the most frequent cranial deformity in all groups. We observed a positive association between the days of hospitalization and the CVAI and there was no relationship between the degree of prematurity and the severity of the positional cranial deformation.
CONCLUSIONS
Most of the patients admitted to the EIP presented positional cranial deformities, mainly mild plagiocephaly, regardless of the degree of prematurity. The presence of plagiocephaly was positively associated with prolonged periods of hospitalization. No relationship was confirmed between the degree of prematurity and the severity of the positional cranial deformity.
Topics: Infant, Newborn; Infant; Humans; Infant, Premature; Cross-Sectional Studies; Gestational Age; Birth Weight; Plagiocephaly
PubMed: 37909939
DOI: 10.32641/andespediatr.v94i3.4097 -
Archives of Plastic Surgery Mar 2024With the advent of cranial orthoses as therapeutic medical devices for the treatment of severe positional head deformities in Japan, an increasing number of patients...
With the advent of cranial orthoses as therapeutic medical devices for the treatment of severe positional head deformities in Japan, an increasing number of patients are being treated with them. However, assessing the effectiveness of a treatment is often difficult due to the use of different metrics. This study aimed to evaluate the effectiveness of cranial orthoses for deformational plagiocephaly using two- (2D) and three-dimensional (3D) evaluation metrics. We conducted a retrospective study of infant patients with deformational plagiocephaly who underwent cranial orthosis treatment. We evaluated the severity of deformational plagiocephaly using cranial asymmetry (CA) and the cranial vault asymmetry index (CVAI) as 2D metrics, and anterior and posterior symmetry ratios as 3D metrics. The patients were divided into 24 subgroups based on the initial severity of each outcome and their age at the start of treatment. We analyzed the changes in outcomes and correlations within improvements across the age and severity categories. Overall, 1,038 infants were included in this study. The mean CA, CVAI, and anterior and posterior symmetry ratios improved significantly after cranial orthosis treatment. The improvement in each score was greater in patients with more severe initial deformities and in those who underwent treatment at a younger age. Cranial orthosis treatment was effective in correcting deformational plagiocephaly in infants, as demonstrated by improvements in both 2D and 3D metrics. Patients with more severe initial deformities and those who underwent treatment at a younger age showed greater improvement.
PubMed: 38596144
DOI: 10.1055/a-2222-1494 -
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