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Wiley Interdisciplinary Reviews.... Jul 2016Craniosynostosis is a condition of complex etiology that always involves the premature fusion of one or multiple cranial sutures and includes various anomalies of the... (Review)
Review
Craniosynostosis is a condition of complex etiology that always involves the premature fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard tissues of the head. Steady progress in the field has resulted in identifying gene mutations that recurrently cause craniosynostosis. There are now scores of mutations on many genes causally related to craniosynostosis syndromes, though the genetic basis for the majority of nonsyndromic cases is unknown. Identification of these genetic mutations has allowed significant progress in understanding the intrinsic properties of cranial sutures, including mechanisms responsible for normal suture patency and for pathogenesis of premature suture closure. An understanding of morphogenesis of cranial vault sutures is critical to understanding the pathophysiology of craniosynostosis conditions, but the field is now poised to recognize the repeated changes in additional skeletal and soft tissues of the head that typically accompany premature suture closure. We review the research that has brought an understanding of premature suture closure within our reach. We then enumerate the less well-studied, but equally challenging, nonsutural phenotypes of craniosynostosis conditions that are well characterized in available mouse models. We consider craniosynostosis as a complex growth disorder of multiple tissues of the developing head, whose growth is also targeted by identified mutations in ways that are poorly understood. Knowledge gained from studies of humans and mouse models for these conditions underscores the diverse, associated developmental anomalies of the head that contribute to the complex phenotypes of craniosynostosis conditions presenting novel challenges for future research. WIREs Dev Biol 2016, 5:429-459. doi: 10.1002/wdev.227 For further resources related to this article, please visit the WIREs website.
Topics: Animals; Craniosynostoses; Growth Disorders; Humans; Morphogenesis; Phenotype
PubMed: 27002187
DOI: 10.1002/wdev.227 -
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 -
International Journal of Biological... 2019Craniosynostosis, is the premature fusion of one or more cranial sutures which is the second most common cranial facial anomalies. The premature cranial sutures leads to... (Review)
Review
Craniosynostosis, is the premature fusion of one or more cranial sutures which is the second most common cranial facial anomalies. The premature cranial sutures leads to deformity of skull shape and restricts the growth of brain, which might elicit severe neurologic damage. Craniosynostosis exhibit close correlations with a varieties of syndromes. During the past two decades, as the appliance of high throughput DNA sequencing techniques, steady progresses has been made in identifying gene mutations in both syndromic and nonsyndromic cases, which allow researchers to better understanding the genetic roles in the development of cranial vault. As the enrichment of known mutations involved in the pathogenic of premature sutures fusion, multiple signaling pathways have been investigated to dissect the underlying mechanisms beneath the disease. In addition to genetic etiology, environment factors, especially mechanics, have also been proposed to have vital roles during the pathophysiological of craniosynostosis. However, the influence of mechanics factors in the cranial development remains largely unknown. In this review, we present a brief overview of the updated genetic mutations and environmental factors identified in both syndromic and nonsyndromic craniosynostosis. Furthermore, potential molecular signaling pathways and its relations have been described.
Topics: Craniosynostoses; Humans; Mutation; Signal Transduction; Skull
PubMed: 30745822
DOI: 10.7150/ijbs.29183 -
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 -
British Medical Journal (Clinical... Mar 1985
Topics: Acrocephalosyndactylia; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Facial Neoplasms; Humans; Orbit; Surgery, Plastic; Wounds and Injuries
PubMed: 3918719
DOI: 10.1136/bmj.290.6469.693 -
BMJ (Clinical Research Ed.) Aug 1993
Topics: Craniosynostoses; England; Humans
PubMed: 8400984
DOI: 10.1136/bmj.307.6903.560-a -
Proceedings of the Royal Society of... Feb 1947
Topics: Craniosynostoses
PubMed: 19993497
DOI: No ID Found -
Journal of Medical Genetics Apr 1983
Topics: Craniosynostoses; Humans; Syndrome
PubMed: 6842556
DOI: 10.1136/jmg.20.2.154 -
The Cleft Palate-craniofacial Journal :... Oct 2021Very few studies focus on the quantification of severity of synostotic anterior brachycephaly. Aim of this study is to implement Utrecht Cranial Shape Quantifier (UCSQ)...
OBJECTIVES
Very few studies focus on the quantification of severity of synostotic anterior brachycephaly. Aim of this study is to implement Utrecht Cranial Shape Quantifier (UCSQ) in brachycephaly patients to objectively quantify severity for both clinical and research purposes.
DESIGN
Retrospective study.
SETTING
Primary craniofacial center.
PATIENTS AND PARTICIPANTS
Fifteen preoperative patients with bilateral coronal craniosynostosis (age <1.5 years).
INTERVENTION
Utrecht Cranial Shape Quantifier was used to quantify severity using the variables: width of frontal peak ratio, difference forehead peak and occiput peak, and width between sides of the head.
MAIN OUTCOME MEASURE(S)
The UCSQ variables were combined and related to Argenta clinical classification and cephalic index (CI) using 1-way analysis of variance (ANOVA). All parameters were derived from computed tomography scans.
RESULTS
Statistically significant differences were found between group means of UCSQ in the 3 categories of Argenta (ANOVA; (2,12) = 22.461; < .01). Tukey post hoc test showed a significant difference between Argenta types 1 and 2, types 1 and 3, and types 2 and 3 (all < .01). Statistically significant differences were found between traditional CI and Argenta types ((2,12) = 4.956; = .03). Tukey post hoc test showed significantly difference between Argenta type 1 and 3 ( = .02). No differences were found between other types. Low correlation was found between UCSQ and CI ( = 0.47).
CONCLUSIONS
Utrecht Cranial Shape Quantifier objectively captures and quantifies the shape of synostotic brachycephaly, and we therefore developed a suitable method to put severity of synostotic (anterior) brachycephaly into numbers.
Topics: Cephalometry; Craniosynostoses; Head; Humans; Infant; Retrospective Studies; Skull
PubMed: 33380220
DOI: 10.1177/1055665620982777 -
Developmental Medicine and Child... Jan 2022To assess the relationship of surface area of the cerebral cortex to intracranial volume (ICV) in syndromic craniosynostosis.
AIM
To assess the relationship of surface area of the cerebral cortex to intracranial volume (ICV) in syndromic craniosynostosis.
METHOD
Records of 140 patients (64 males, 76 females; mean age 8y 6mo [SD 5y 6mo], range 1y 2mo-24y 2mo) with syndromic craniosynostosis were reviewed to include clinical and imaging data. Two hundred and three total magnetic resonance imaging (MRI) scans were evaluated in this study (148 patients with fibroblast growth factor receptor [FGFR], 19 patients with TWIST1, and 36 controls). MRIs were processed via FreeSurfer pipeline to determine total ICV and cortical surface area (CSA). Scaling coefficients were calculated from log-transformed data via mixed regression to account for multiple measurements, sex, syndrome, and age. Educational outcomes were reported by syndrome.
RESULTS
Mean ICV was greater in patients with FGFR (1519cm , SD 269cm , p=0.016) than in patients with TWIST1 (1304cm , SD 145cm ) or controls (1405cm , SD 158cm ). CSA was related to ICV by a scaling law with an exponent of 0.68 (95% confidence interval [CI] 0.61-0.76) in patients with FGFR compared to 0.81 (95% CI 0.50-1.12) in patients with TWIST1 and 0.77 (95% CI 0.61-0.93) in controls. Lobar analysis revealed reduced scaling in the parietal (0.50, 95% CI 0.42-0.59) and occipital (0.67, 95% CI 0.54-0.80) lobes of patients with FGFR compared with controls. Modified learning environments were needed more often in patients with FGFR.
INTERPRETATION
Despite adequate ICV in FGFR-mediated craniosynostosis, CSA development is reduced, indicating maldevelopment, particularly in parietal and occipital lobes. Modified education is also more common in patients with FGFR.
Topics: Adolescent; Cerebral Cortex; Child; Child, Preschool; Craniosynostoses; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Malformations of Cortical Development; Young Adult
PubMed: 34265076
DOI: 10.1111/dmcn.14984