Materiały źródłowe

• #1 Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35636659/

  Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The global epidemiology of craniosynostosis is unknown. We conducted a meta-analysis to estimate global birth prevalence. […] The overall birth prevalence of craniosynostosis was 5.9 per 10,000 live births (20 studies; 95% confidence interval [CI]: 3.9, 8.4; I2 = 100%). The birth prevalence of nonsyndromic craniosynostosis was 5.2 per 10,000 live births (9 studies; 95% CI: 3.4, 7.3; I2 = 98%). The number of children born globally with craniosynostosis in 2019 was estimated to be 84,665 (95% CI: 55,965, 120,540), including 72,857 (95% CI: 47,637, 120,280) with nonsyndromic craniosynostosis. […] Craniosynostosis is a common condition that affects the neurocognitive and craniofacial skeletal development of children worldwide. Initiatives to scale up capacity for craniosynostosis epidemiologic research and clinical care are warranted, particularly in low- and middle-income countries.

• #2 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  The prevalence of craniosynostosis is 1 in 2000 to 2500 live births. […] Risk factors include maternal smoking, in utero exposure to teratogens, intrauterine constraint, diabetes, and excessive use of caffeine. Thyroid disease may also predispose to developing craniosynostosis. […] Non-syndromic craniosynostosis occurs in roughly 75% of cases, with the remaining cases observed with syndromic craniosynostosis. […] Craniosynostosis is classified based on the affected sutures: sagittal craniosynostosis occurs in 55% to 60% of the cases, unilateral coronal craniosynostosis in 20% to 25% of cases, metopic craniosynostosis in approximately 15% of cases, and lambdoid craniosynostosis in 3% to 5% of cases. Clinical identification is typically apparent within the first year of life.

• #3 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. […] The overall prevalence of craniosynostosis has been estimated at between 1 in 2100 and 1 in 2500 births. […] Craniosynostosis is important to recognise and treat because it can be associated with many complications affecting sensory, respiratory and neurological function. […] Craniosynostosis should ideally be managed in a multidisciplinary setting. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both).

• #4 Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35636659/

  Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The global epidemiology of craniosynostosis is unknown. We conducted a meta-analysis to estimate global birth prevalence. […] The overall birth prevalence of craniosynostosis was 5.9 per 10,000 live births (20 studies; 95% confidence interval [CI]: 3.9, 8.4; I2 = 100%). The birth prevalence of nonsyndromic craniosynostosis was 5.2 per 10,000 live births (9 studies; 95% CI: 3.4, 7.3; I2 = 98%). The number of children born globally with craniosynostosis in 2019 was estimated to be 84,665 (95% CI: 55,965, 120,540), including 72,857 (95% CI: 47,637, 120,280) with nonsyndromic craniosynostosis. […] Craniosynostosis is a common condition that affects the neurocognitive and craniofacial skeletal development of children worldwide. Initiatives to scale up capacity for craniosynostosis epidemiologic research and clinical care are warranted, particularly in low- and middle-income countries.

• #5 Epidemiology of craniosynostosis in Norway in: Journal of Neurosurgery: Pediatrics Volume 26 Issue 1 (2020) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/26/1/article-p68.xml

  The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases. […] The incidence increased significantly during the study period and was 5.5 per 10,000 live births (1/1800) in the last 5-year period. […] Syndromic craniosynostosis accounted for 27% of the cases, and the incidence remained stable throughout the three 5-year periods. […] The incidence of craniosynostosis increased during the study period, and the observed incidence is among the highest reported. […] The study revealed a high number of familial cases in both syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics as an underlying cause of craniosynostosis. […] The authors found a high incidence and a high number of familial cases of syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics in craniosynostosis.

• #6 Incidence of Non-Syndromic and Syndromic Craniosynostosis in Swed…: Ingenta Connect

  https://www.ingentaconnect.com/content/wk/scs/2022/00000033/00000005/art00093

  Premature craniosynostosis is a rare condition, with a wide range of incidence estimations in the literature. The aim of this study was to establish the current incidence among the Swedish population. […] Results show an incidence of 7.7 cases per 10,000 live births, including 0.60/10,000 syndromic craniosynostosis. […] Due to information programs among health care staff and a system for early diagnosis through rapid communication, these results seem to mirror the true incidence of craniosynostosis in the Swedish population. The updated incidence data will facilitate healthcare planning and make future studies of possible changes in craniosynostosis incidence more accurate.

• #7 The incidence of craniosynostosis in the Netherlands, 1997-2007

  https://repub.eur.nl/pub/34587/

  The first aim of this study was to determine the incidence of craniosynostosis, metopic synostosis and sagittal synostosis in the Netherlands from 1997 to 2007. […] The incidence of craniosynostosis increased from 2.6 per 10 000 live births in 1997 to 6.4 in 2007. […] The incidence of metopic synostosis showed a significant increase of 6% each year (p = 0.029). […] We observed a significant change in the proportion of metopic synostosis, with a mean percentage of 20% during 1997-2000 and 27% during 2001-2007 (p = 0.046). […] The incidence of sagittal synostosis annually increased by 3% (p = 0.89). […] Conclusion: The incidence of craniosynostosis, metopic synostosis and sagittal synostosis is 6.4; 1.9; and 2.8 per 10,000 live births, respectively. […] Both the incidence and the proportion of metopic synostosis have significantly increased over the study period, concluding that metopic synostosis is on the rise.

• #8 Epidemiology of craniosynostosis in Norway in: Journal of Neurosurgery: Pediatrics Volume 26 Issue 1 (2020) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/26/1/article-p68.xml

  The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases. […] The incidence increased significantly during the study period and was 5.5 per 10,000 live births (1/1800) in the last 5-year period. […] Syndromic craniosynostosis accounted for 27% of the cases, and the incidence remained stable throughout the three 5-year periods. […] The incidence of craniosynostosis increased during the study period, and the observed incidence is among the highest reported. […] The study revealed a high number of familial cases in both syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics as an underlying cause of craniosynostosis. […] The authors found a high incidence and a high number of familial cases of syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics in craniosynostosis.

• #9 The incidence of craniosynostosis in the Netherlands, 1997-2007

  https://repub.eur.nl/pub/34587/

  The first aim of this study was to determine the incidence of craniosynostosis, metopic synostosis and sagittal synostosis in the Netherlands from 1997 to 2007. […] The incidence of craniosynostosis increased from 2.6 per 10 000 live births in 1997 to 6.4 in 2007. […] The incidence of metopic synostosis showed a significant increase of 6% each year (p = 0.029). […] We observed a significant change in the proportion of metopic synostosis, with a mean percentage of 20% during 1997-2000 and 27% during 2001-2007 (p = 0.046). […] The incidence of sagittal synostosis annually increased by 3% (p = 0.89). […] Conclusion: The incidence of craniosynostosis, metopic synostosis and sagittal synostosis is 6.4; 1.9; and 2.8 per 10,000 live births, respectively. […] Both the incidence and the proportion of metopic synostosis have significantly increased over the study period, concluding that metopic synostosis is on the rise.

• #10 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  The prevalence of craniosynostosis is 1 in 2000 to 2500 live births. […] Risk factors include maternal smoking, in utero exposure to teratogens, intrauterine constraint, diabetes, and excessive use of caffeine. Thyroid disease may also predispose to developing craniosynostosis. […] Non-syndromic craniosynostosis occurs in roughly 75% of cases, with the remaining cases observed with syndromic craniosynostosis. […] Craniosynostosis is classified based on the affected sutures: sagittal craniosynostosis occurs in 55% to 60% of the cases, unilateral coronal craniosynostosis in 20% to 25% of cases, metopic craniosynostosis in approximately 15% of cases, and lambdoid craniosynostosis in 3% to 5% of cases. Clinical identification is typically apparent within the first year of life.

• #11 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1175957-overview

  Incidence of craniosynostosis is 0.040.1% or 1 in every 2500 babies. […] Of affected individuals, 28% have primary craniosynostosis. The remaining cases are secondary craniosynostosis, which frequently is accompanied by microcephaly. […] The frequencies of the various types of craniosynostosis are as follows: sagittal 5058%, coronal 2029%, metopic 410%, and lambdoid 24%. […] Raised intracranial pressure is rare with fusion of a single suture. It can occur in primary craniosynostosis when multiple sutures fuse. […] Craniosynostosis is equally distributed in both boys and girls. […] Craniosynostosis is evident at birth (neonatal period) when associated with other craniofacial abnormalities. […] Secondary or primary craniosynostosis becomes evident as the child grows (018 mo).

• #12 The incidence of craniosynostosis in the Netherlands, 1997-2007

  https://repub.eur.nl/pub/34587/

  The first aim of this study was to determine the incidence of craniosynostosis, metopic synostosis and sagittal synostosis in the Netherlands from 1997 to 2007. […] The incidence of craniosynostosis increased from 2.6 per 10 000 live births in 1997 to 6.4 in 2007. […] The incidence of metopic synostosis showed a significant increase of 6% each year (p = 0.029). […] We observed a significant change in the proportion of metopic synostosis, with a mean percentage of 20% during 1997-2000 and 27% during 2001-2007 (p = 0.046). […] The incidence of sagittal synostosis annually increased by 3% (p = 0.89). […] Conclusion: The incidence of craniosynostosis, metopic synostosis and sagittal synostosis is 6.4; 1.9; and 2.8 per 10,000 live births, respectively. […] Both the incidence and the proportion of metopic synostosis have significantly increased over the study period, concluding that metopic synostosis is on the rise.

• #13

  https://journals.lww.com/jcraniofacialsurgery/fulltext/2012/09000/changing_epidemiology_of_nonsyndromic.4.aspx

  Recent studies in Europe and the United States report increased incidence of metopic synostosis. […] This research aimed to determine changes in incidence and subtypes of craniosynostosis in Victoria and to identify perinatal risk factors. […] The prevalence of nonsyndromic craniosynostosis was 3.1 in 10,000 live births in Victoria. On average, the incidence of nonsyndromic craniosynostosis increased by 2.5% per year among Victorian live births. Over 25 years, metopic synostosis incidence significantly increased by 7.1% per year in the population of Victoria, outpacing other subtypes. […] This study revealed a true increase in incidence of metopic synostosis in Victoria, which could be a result of increased frequency of multiple births, preterm gestation, low birth weight, and high maternal age in the Victorian population from 1982 to 2008. The incidence of other nonsyndromic craniosynostoses, which include sagittal, unicoronal, and multisutural craniosynostoses, however, has remained unchanged.

• #14 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  The prevalence of craniosynostosis is 1 in 2000 to 2500 live births. […] Risk factors include maternal smoking, in utero exposure to teratogens, intrauterine constraint, diabetes, and excessive use of caffeine. Thyroid disease may also predispose to developing craniosynostosis. […] Non-syndromic craniosynostosis occurs in roughly 75% of cases, with the remaining cases observed with syndromic craniosynostosis. […] Craniosynostosis is classified based on the affected sutures: sagittal craniosynostosis occurs in 55% to 60% of the cases, unilateral coronal craniosynostosis in 20% to 25% of cases, metopic craniosynostosis in approximately 15% of cases, and lambdoid craniosynostosis in 3% to 5% of cases. Clinical identification is typically apparent within the first year of life.

• #15 Craniosynostosis | Concise Medical Knowledge

  https://www.lecturio.com/concepts/craniosynostosis/

  Craniosynostosis is classified as simple or complex, and can be caused by environmental factors or genetic syndromes. […] Prevalence: 1 in 2,000-2,500 live births. […] Risk factors: Environmental: maternal smoking, teratogen exposure, intrauterine constraint, fetal positioning. […] Genetic: Due to mutations in 20% of cases. […] Typically autosomal dominant. […] 50% are new mutations. […] Types: Non-syndromic in 75% of cases, Syndromic in 25% of cases.

• #16 Epidemiology of craniosynostosis in Norway in: Journal of Neurosurgery: Pediatrics Volume 26 Issue 1 (2020) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/26/1/article-p68.xml

  The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases. […] The incidence increased significantly during the study period and was 5.5 per 10,000 live births (1/1800) in the last 5-year period. […] Syndromic craniosynostosis accounted for 27% of the cases, and the incidence remained stable throughout the three 5-year periods. […] The incidence of craniosynostosis increased during the study period, and the observed incidence is among the highest reported. […] The study revealed a high number of familial cases in both syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics as an underlying cause of craniosynostosis. […] The authors found a high incidence and a high number of familial cases of syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics in craniosynostosis.

• #17 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. […] The overall prevalence of craniosynostosis has been estimated at between 1 in 2100 and 1 in 2500 births. […] Craniosynostosis is important to recognise and treat because it can be associated with many complications affecting sensory, respiratory and neurological function. […] Craniosynostosis should ideally be managed in a multidisciplinary setting. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both).

• #18 Craniosynostosis – Wikipedia

  https://en.wikipedia.org/wiki/Craniosynostosis

  Craniosynostosis occurs in one in 2000 births. […] It is estimated that craniosynostosis affects 1 in 1,800 to 3,000 live births worldwide. […] Three out of every four cases affect males. […] Sagittal synostosis is the most common phenotype, representing 40% to 55% of nonsyndromic cases, while coronal synostosis represents between 20% and 25% of cases. […] Metopic synostosis is a factor in 5% to 15% of cases, and lambdoid synostosis is seen in 0% to 5% of nonsyndromic cases. […] Five to 15% of the time more than one suture is involved; this is referred to as „complex craniosynostosis” and is typically part of a syndrome.

• #19 Craniosynostosis | Pocket Dentistry

  https://pocketdentistry.com/craniosynostosis-2/

  Craniosynostosis encompasses fusion of one of these sutures in a sporadic occurrence without any other systemic abnormalities. […] Incidence: 1 in 2,000 (40% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 4:1. […] Incidence: 1 in 2,500 to 15,000 (10-20%; recent studies have shown an increase of metopic synostosis up to 40% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 3:1. […] Incidence: 1 in 10,000 (20% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, female:male of 3:2. […] Incidence: 1 in 10,000 (20% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 1:1. […] Incidence: Rare, less than 3% of all nonsyndromic craniosynostosis Epidemiology: Sporadic, male:female of 2:1.

• #20 Craniosynostosis | Pocket Dentistry

  https://pocketdentistry.com/craniosynostosis-2/

  Craniosynostosis encompasses fusion of one of these sutures in a sporadic occurrence without any other systemic abnormalities. […] Incidence: 1 in 2,000 (40% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 4:1. […] Incidence: 1 in 2,500 to 15,000 (10-20%; recent studies have shown an increase of metopic synostosis up to 40% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 3:1. […] Incidence: 1 in 10,000 (20% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, female:male of 3:2. […] Incidence: 1 in 10,000 (20% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 1:1. […] Incidence: Rare, less than 3% of all nonsyndromic craniosynostosis Epidemiology: Sporadic, male:female of 2:1.

• #21 Craniosynostosis | Pocket Dentistry

  https://pocketdentistry.com/craniosynostosis-2/

  Craniosynostosis encompasses fusion of one of these sutures in a sporadic occurrence without any other systemic abnormalities. […] Incidence: 1 in 2,000 (40% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 4:1. […] Incidence: 1 in 2,500 to 15,000 (10-20%; recent studies have shown an increase of metopic synostosis up to 40% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 3:1. […] Incidence: 1 in 10,000 (20% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, female:male of 3:2. […] Incidence: 1 in 10,000 (20% of all nonsyndromic craniosynostosis) Epidemiology: Sporadic, male:female of 1:1. […] Incidence: Rare, less than 3% of all nonsyndromic craniosynostosis Epidemiology: Sporadic, male:female of 2:1.

• #22 Pediatric Craniosynostosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1175957-overview

  Incidence of craniosynostosis is 0.040.1% or 1 in every 2500 babies. […] Of affected individuals, 28% have primary craniosynostosis. The remaining cases are secondary craniosynostosis, which frequently is accompanied by microcephaly. […] The frequencies of the various types of craniosynostosis are as follows: sagittal 5058%, coronal 2029%, metopic 410%, and lambdoid 24%. […] Raised intracranial pressure is rare with fusion of a single suture. It can occur in primary craniosynostosis when multiple sutures fuse. […] Craniosynostosis is equally distributed in both boys and girls. […] Craniosynostosis is evident at birth (neonatal period) when associated with other craniofacial abnormalities. […] Secondary or primary craniosynostosis becomes evident as the child grows (018 mo).

• #23 What’s New

  https://www.cdph.ca.gov/Programs/CFH/DGDS/Pages/cbdmp/Craniosynostosis.aspx

  Rates of Craniosynostosis: 20182020 […] Overall […] Rates of Craniosynostosis Prevalence Rate* All Deliveries 5.0 […] By Age […] Mothers Age (Years) Prevalence Rate* 24 and under 2.9 2529 6.0 3034 5.4 3539 4.8 40 and over 5.7 […] By Race and Ethnicity […] Mothers Race and Ethnicity Prevalence Rate* American Indian/Alaskan Native, Native Hawaiian/Pacific Islander, Other/Non-Hispanic 2.6 Asian/Non-Hispanic 2.1 Black/Non-Hispanic 0.7 Hispanic 5.0 White/Non-Hispanic 6.6 […] *Per 10,000 live births […] Data Source: California Birth Defects Monitoring Program Registry, 20182020, California 10-County Catchment Area (Fresno, Kern, Kings, Madera, Merced, Orange, San Diego, San Joaquin, Stanislaus, and Tulare)

• #24 What’s New

  https://www.cdph.ca.gov/Programs/CFH/DGDS/Pages/cbdmp/Craniosynostosis.aspx

  Rates of Craniosynostosis: 20182020 […] Overall […] Rates of Craniosynostosis Prevalence Rate* All Deliveries 5.0 […] By Age […] Mothers Age (Years) Prevalence Rate* 24 and under 2.9 2529 6.0 3034 5.4 3539 4.8 40 and over 5.7 […] By Race and Ethnicity […] Mothers Race and Ethnicity Prevalence Rate* American Indian/Alaskan Native, Native Hawaiian/Pacific Islander, Other/Non-Hispanic 2.6 Asian/Non-Hispanic 2.1 Black/Non-Hispanic 0.7 Hispanic 5.0 White/Non-Hispanic 6.6 […] *Per 10,000 live births […] Data Source: California Birth Defects Monitoring Program Registry, 20182020, California 10-County Catchment Area (Fresno, Kern, Kings, Madera, Merced, Orange, San Diego, San Joaquin, Stanislaus, and Tulare)

• #25 Craniosynostosis by race/ethnicity: Louisiana, 2014-2017 Average | PeriStats | March of Dimes

  https://www.marchofdimes.org/peristats/data/old?reg=22&top=16&stop=504&lev=1&slev=4&obj=1

  It is important to track birth defects and trends so that research can be done to understand possible causes and methods of prevention. […] The majority of states (44 states and Puerto Rico) have a type of birth defects surveillance system. […] States also report data to the National Birth Defects Prevention Network (NBDPN), which publishes an annual report. […] During 2014-2017 (average) in Louisiana, 10.7 in 10,000 live births were born with Craniosynostosis.

• #26 Craniosynostosis by race/ethnicity: Illinois, 2014-2018 Average | PeriStats | March of Dimes

  https://www.marchofdimes.org/peristats/data/old?reg=17&top=16&stop=504&lev=1&slev=4&obj=1

  It is important to track birth defects and trends so that research can be done to understand possible causes and methods of prevention. […] The majority of states (44 states and Puerto Rico) have a type of birth defects surveillance system. […] States also report data to the National Birth Defects Prevention Network (NBDPN), which publishes an annual report. […] During 2014-2018 (average) in Illinois, 5.5 in 10,000 live births were born with Craniosynostosis.

• #27 Craniosynostosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544366/

  The prevalence of craniosynostosis is 1 in 2000 to 2500 live births. […] Risk factors include maternal smoking, in utero exposure to teratogens, intrauterine constraint, diabetes, and excessive use of caffeine. Thyroid disease may also predispose to developing craniosynostosis. […] Non-syndromic craniosynostosis occurs in roughly 75% of cases, with the remaining cases observed with syndromic craniosynostosis. […] Craniosynostosis is classified based on the affected sutures: sagittal craniosynostosis occurs in 55% to 60% of the cases, unilateral coronal craniosynostosis in 20% to 25% of cases, metopic craniosynostosis in approximately 15% of cases, and lambdoid craniosynostosis in 3% to 5% of cases. Clinical identification is typically apparent within the first year of life.

• #28 Craniosynostosis | Concise Medical Knowledge

  https://www.lecturio.com/concepts/craniosynostosis/

  Craniosynostosis is classified as simple or complex, and can be caused by environmental factors or genetic syndromes. […] Prevalence: 1 in 2,000-2,500 live births. […] Risk factors: Environmental: maternal smoking, teratogen exposure, intrauterine constraint, fetal positioning. […] Genetic: Due to mutations in 20% of cases. […] Typically autosomal dominant. […] 50% are new mutations. […] Types: Non-syndromic in 75% of cases, Syndromic in 25% of cases.

• #29

  https://journals.lww.com/epidem/abstract/1995/05000/parental_occupations_as_risk_factors_for.20.aspx

  In a population-based case-control study, we examined relations between maternal and paternal occupations and the risk of infant craniosynostosis. […] We found no strong associations for maternal occupations. Of paternal occupations, two groups were associated with moderately increased odds ratios after adjustment for maternal smoking and altitude: agriculture and forestry (odds ratio = 2.3; 95% confidence interval = 1.05.2), and mechanics and repairmen (odds ratio = 2.7; 95% confidence interval = 1.26.1). For both, the odds ratios were higher for males.

• #30

  https://journals.lww.com/jcraniofacialsurgery/fulltext/2012/09000/changing_epidemiology_of_nonsyndromic.4.aspx

  Recent studies in Europe and the United States report increased incidence of metopic synostosis. […] This research aimed to determine changes in incidence and subtypes of craniosynostosis in Victoria and to identify perinatal risk factors. […] The prevalence of nonsyndromic craniosynostosis was 3.1 in 10,000 live births in Victoria. On average, the incidence of nonsyndromic craniosynostosis increased by 2.5% per year among Victorian live births. Over 25 years, metopic synostosis incidence significantly increased by 7.1% per year in the population of Victoria, outpacing other subtypes. […] This study revealed a true increase in incidence of metopic synostosis in Victoria, which could be a result of increased frequency of multiple births, preterm gestation, low birth weight, and high maternal age in the Victorian population from 1982 to 2008. The incidence of other nonsyndromic craniosynostoses, which include sagittal, unicoronal, and multisutural craniosynostoses, however, has remained unchanged.

• #31 NCT03025763 | Boston Children’s Hospital

  https://www.childrenshospital.org/clinical-trials/nct03025763

  Craniosynostosis (CS) is a common malformation occurring in ~4 per 10,000 live births in which the sutures between skull bones close too early, causing long-term problems with brain and skull growth. […] The etiology of coronal NSC (cNSC) is not well understood, although the published literature suggests that it is a multifactorial condition. […] About 5-14% of coronal craniosynostosis patients have a positive family history, with a specific genetic etiology identified in ~25% of cNSC cases, suggesting a strong genetic component in the pathogenesis of this birth defect. […] Craniosynostosis and other skull abnormalities are among the most common human malformations usually requiring surgical and medical intervention. […] High quality genomic data will be obtained from patients with coronal nonsyndromic craniosynostosis (cNSC) and their available parents.

• #32 NCT03025763 | Boston Children’s Hospital

  https://www.childrenshospital.org/clinical-trials/nct03025763

  Craniosynostosis (CS) is a common malformation occurring in ~4 per 10,000 live births in which the sutures between skull bones close too early, causing long-term problems with brain and skull growth. […] The etiology of coronal NSC (cNSC) is not well understood, although the published literature suggests that it is a multifactorial condition. […] About 5-14% of coronal craniosynostosis patients have a positive family history, with a specific genetic etiology identified in ~25% of cNSC cases, suggesting a strong genetic component in the pathogenesis of this birth defect. […] Craniosynostosis and other skull abnormalities are among the most common human malformations usually requiring surgical and medical intervention. […] High quality genomic data will be obtained from patients with coronal nonsyndromic craniosynostosis (cNSC) and their available parents.

• #33 Epidemiology of craniosynostosis in Norway in: Journal of Neurosurgery: Pediatrics Volume 26 Issue 1 (2020) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/26/1/article-p68.xml

  The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases. […] The incidence increased significantly during the study period and was 5.5 per 10,000 live births (1/1800) in the last 5-year period. […] Syndromic craniosynostosis accounted for 27% of the cases, and the incidence remained stable throughout the three 5-year periods. […] The incidence of craniosynostosis increased during the study period, and the observed incidence is among the highest reported. […] The study revealed a high number of familial cases in both syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics as an underlying cause of craniosynostosis. […] The authors found a high incidence and a high number of familial cases of syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics in craniosynostosis.

• #34 Epidemiology of craniosynostosis in Norway in: Journal of Neurosurgery: Pediatrics Volume 26 Issue 1 (2020) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/26/1/article-p68.xml

  The reported incidence of craniosynostosis varies between 1 in 1600 and 1 in 4000 live births, and it seems to be increasing. […] Syndromic craniosynostosis constitutes between 12% and 31% of all cases. […] The epidemiology of craniosynostosis in the literature varies significantly between countries, regions, and medical centers. […] The increase over the three 5-year periods is significant for individuals with nonsyndromic craniosynostosis and/or midline synostosis in addition to individuals with rare genetic syndromes. […] The high number of familial cases in nonsyndromic craniosynostosis suggests a genetic cause, in addition to the more established genetic involvement in syndromic craniosynostosis.

• #35 Craniosynostosis by race/ethnicity: Illinois, 2014-2018 Average | PeriStats | March of Dimes

  https://www.marchofdimes.org/peristats/data/old?reg=17&top=16&stop=504&lev=1&slev=4&obj=1

  It is important to track birth defects and trends so that research can be done to understand possible causes and methods of prevention. […] The majority of states (44 states and Puerto Rico) have a type of birth defects surveillance system. […] States also report data to the National Birth Defects Prevention Network (NBDPN), which publishes an annual report. […] During 2014-2018 (average) in Illinois, 5.5 in 10,000 live births were born with Craniosynostosis.

• #36 Incidence of Non-Syndromic and Syndromic Craniosynostosis in Swed…: Ingenta Connect

  https://www.ingentaconnect.com/content/wk/scs/2022/00000033/00000005/art00093

  Premature craniosynostosis is a rare condition, with a wide range of incidence estimations in the literature. The aim of this study was to establish the current incidence among the Swedish population. […] Results show an incidence of 7.7 cases per 10,000 live births, including 0.60/10,000 syndromic craniosynostosis. […] Due to information programs among health care staff and a system for early diagnosis through rapid communication, these results seem to mirror the true incidence of craniosynostosis in the Swedish population. The updated incidence data will facilitate healthcare planning and make future studies of possible changes in craniosynostosis incidence more accurate.

• #37 Craniosynostosis: A multidisciplinary approach based on medical, social and demographic factors in a developing country | Revista Médica del Hospital General de México

  https://www.elsevier.es/en-revista-revista-medica-del-hospital-general-325-articulo-craniosynostosis-a-multidisciplinary-approach-based-S0185106316300129

  Craniosynostosis is defined as a premature fusion of the cranial sutures, and has an incidence of 1/1750 to 1/2100 live births. […] Incidence of isolated suture craniosynostosis is about 1 in 2000 live births and the gender more frequently affected is the male gender. […] The objectives of the following article are to describe the study and management protocol of patients with craniosynostosis at a public, third level institution, taking into account the social and demographic factors of the patient, in a developing country. […] In Mexico, social, cultural, demographic and economic factors play a determinant role in the treatment of craniosynostosis. Oftentimes, patients are referred rather late (around 1 year of age) for the first evaluation by the craniofacial team. This is partly due to an insufficient medical surveillance and follow-up in patients and families who live in rural areas and small towns, and in families with a poor cultural background.

• #38 Epidemiology of craniosynostosis in Norway in: Journal of Neurosurgery: Pediatrics Volume 26 Issue 1 (2020) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/26/1/article-p68.xml

  The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases. […] The incidence increased significantly during the study period and was 5.5 per 10,000 live births (1/1800) in the last 5-year period. […] Syndromic craniosynostosis accounted for 27% of the cases, and the incidence remained stable throughout the three 5-year periods. […] The incidence of craniosynostosis increased during the study period, and the observed incidence is among the highest reported. […] The study revealed a high number of familial cases in both syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics as an underlying cause of craniosynostosis. […] The authors found a high incidence and a high number of familial cases of syndromic and nonsyndromic craniosynostosis, thus highlighting the importance of genetics in craniosynostosis.

• #39 The incidence of craniosynostosis in the Netherlands, 1997-2007

  https://repub.eur.nl/pub/34587/

  The first aim of this study was to determine the incidence of craniosynostosis, metopic synostosis and sagittal synostosis in the Netherlands from 1997 to 2007. […] The incidence of craniosynostosis increased from 2.6 per 10 000 live births in 1997 to 6.4 in 2007. […] The incidence of metopic synostosis showed a significant increase of 6% each year (p = 0.029). […] We observed a significant change in the proportion of metopic synostosis, with a mean percentage of 20% during 1997-2000 and 27% during 2001-2007 (p = 0.046). […] The incidence of sagittal synostosis annually increased by 3% (p = 0.89). […] Conclusion: The incidence of craniosynostosis, metopic synostosis and sagittal synostosis is 6.4; 1.9; and 2.8 per 10,000 live births, respectively. […] Both the incidence and the proportion of metopic synostosis have significantly increased over the study period, concluding that metopic synostosis is on the rise.

• #40

  https://journals.lww.com/jcraniofacialsurgery/fulltext/2012/09000/changing_epidemiology_of_nonsyndromic.4.aspx

  Recent studies in Europe and the United States report increased incidence of metopic synostosis. […] This research aimed to determine changes in incidence and subtypes of craniosynostosis in Victoria and to identify perinatal risk factors. […] The prevalence of nonsyndromic craniosynostosis was 3.1 in 10,000 live births in Victoria. On average, the incidence of nonsyndromic craniosynostosis increased by 2.5% per year among Victorian live births. Over 25 years, metopic synostosis incidence significantly increased by 7.1% per year in the population of Victoria, outpacing other subtypes. […] This study revealed a true increase in incidence of metopic synostosis in Victoria, which could be a result of increased frequency of multiple births, preterm gestation, low birth weight, and high maternal age in the Victorian population from 1982 to 2008. The incidence of other nonsyndromic craniosynostoses, which include sagittal, unicoronal, and multisutural craniosynostoses, however, has remained unchanged.

• #41 Epidemiology of craniosynostosis in Norway in: Journal of Neurosurgery: Pediatrics Volume 26 Issue 1 (2020) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/26/1/article-p68.xml

  The reported incidence of craniosynostosis varies between 1 in 1600 and 1 in 4000 live births, and it seems to be increasing. […] Syndromic craniosynostosis constitutes between 12% and 31% of all cases. […] The epidemiology of craniosynostosis in the literature varies significantly between countries, regions, and medical centers. […] The increase over the three 5-year periods is significant for individuals with nonsyndromic craniosynostosis and/or midline synostosis in addition to individuals with rare genetic syndromes. […] The high number of familial cases in nonsyndromic craniosynostosis suggests a genetic cause, in addition to the more established genetic involvement in syndromic craniosynostosis.

• #42 Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35636659/

  Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The global epidemiology of craniosynostosis is unknown. We conducted a meta-analysis to estimate global birth prevalence. […] The overall birth prevalence of craniosynostosis was 5.9 per 10,000 live births (20 studies; 95% confidence interval [CI]: 3.9, 8.4; I2 = 100%). The birth prevalence of nonsyndromic craniosynostosis was 5.2 per 10,000 live births (9 studies; 95% CI: 3.4, 7.3; I2 = 98%). The number of children born globally with craniosynostosis in 2019 was estimated to be 84,665 (95% CI: 55,965, 120,540), including 72,857 (95% CI: 47,637, 120,280) with nonsyndromic craniosynostosis. […] Craniosynostosis is a common condition that affects the neurocognitive and craniofacial skeletal development of children worldwide. Initiatives to scale up capacity for craniosynostosis epidemiologic research and clinical care are warranted, particularly in low- and middle-income countries.

• #43 Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35636659/

  Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The global epidemiology of craniosynostosis is unknown. We conducted a meta-analysis to estimate global birth prevalence. […] The overall birth prevalence of craniosynostosis was 5.9 per 10,000 live births (20 studies; 95% confidence interval [CI]: 3.9, 8.4; I2 = 100%). The birth prevalence of nonsyndromic craniosynostosis was 5.2 per 10,000 live births (9 studies; 95% CI: 3.4, 7.3; I2 = 98%). The number of children born globally with craniosynostosis in 2019 was estimated to be 84,665 (95% CI: 55,965, 120,540), including 72,857 (95% CI: 47,637, 120,280) with nonsyndromic craniosynostosis. […] Craniosynostosis is a common condition that affects the neurocognitive and craniofacial skeletal development of children worldwide. Initiatives to scale up capacity for craniosynostosis epidemiologic research and clinical care are warranted, particularly in low- and middle-income countries.

• #44 Craniosynostosis-an Epidemiological Study In A Tertiary Care Institute, IJSR – International Journal of Scientific Research(IJSR), IJSR | World Wide Journals

  https://www.worldwidejournals.com/international-journal-of-scientific-research-(IJSR)/article/craniosynostosis-an-epidemiological-study-in-a-tertiary-care-institute/MTU5NTQ=/

  Aim:– To study the epidemiology, common types, treatment and prognosis of craniosynostosis in 12 cases presented in RGGGH, chennai between Aug 2015– Aug 2017. […] 12 cases who were admitted in RGGGH between Aug 2015 and Aug 2017 with the diagnosis of craniosynotosis were studied. Their demographics were documented, followed up and treatment and prognosis recorded. […] Early identification and corrective surgery for craniosynostosis is imperative to prevent potential long term complications and sequlae.

• #45 Frontiers in Medical Case ReportsMedical Research Online Library-Open Access

  https://www.jmedicalcasereports.org/article_html.php?did=6909&issueno=0

  The craniosynostosis, are complex and broad entities in their approach, which not only hinders their diagnosis but also their management; At present, and as it has been previously referenced, surgical management is not only performed for aesthetic purposes, but also functional, since it is demonstrated that adequate surgical management and at the proper time, decreases the appearance of neurological sequelae secondary to late management of craniosynostosis.

• #46 Craniosynostosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010235

  Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. […] The overall prevalence of craniosynostosis has been estimated at between 1 in 2100 and 1 in 2500 births. […] Craniosynostosis is important to recognise and treat because it can be associated with many complications affecting sensory, respiratory and neurological function. […] Craniosynostosis should ideally be managed in a multidisciplinary setting. […] In a recent analysis of a 10-year prospective cohort of craniosynostosis presenting to our unit, a genetic diagnosis was achieved in 21% of cases, comprising 86% single gene disorders and 15% chromosome abnormalities (one patient had both).

• #47 Craniosynostosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html

  Optimal care of infants with craniofacial anomalies requires a multidisciplinary team approach. Infants should be evaluated within the first few weeks of life. However, referral is appropriate at any age. Once the diagnosis of craniosynostosis is confirmed, the treatment is surgical correction. The best time to intervene is when the infant is between three and nine months of age.

• #48 Craniosynostosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html

  Optimal care of infants with craniofacial anomalies requires a multidisciplinary team approach. Infants should be evaluated within the first few weeks of life. However, referral is appropriate at any age. Once the diagnosis of craniosynostosis is confirmed, the treatment is surgical correction. The best time to intervene is when the infant is between three and nine months of age.

• #49 Craniosynostosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2004/0615/p2863.html

  Optimal care of infants with craniofacial anomalies requires a multidisciplinary team approach. Infants should be evaluated within the first few weeks of life. However, referral is appropriate at any age. Once the diagnosis of craniosynostosis is confirmed, the treatment is surgical correction. The best time to intervene is when the infant is between three and nine months of age.

• #50 Craniosynostosis: A multidisciplinary approach based on medical, social and demographic factors in a developing country | Revista Médica del Hospital General de México

  https://www.elsevier.es/en-revista-revista-medica-del-hospital-general-325-articulo-craniosynostosis-a-multidisciplinary-approach-based-S0185106316300129

  The adequate management of patients with craniosynostosis requires a multidisciplinary team, with a well-organized approach, based on three pillars: the patient’s clinical and tomographic features; the child’s social and demographic aspects; and the technical expertise and available resources at the treating craniofacial center. The already complex treatment protocol can be even more difficult in developing countries due to social and demographic factors.

• #51 Incidence of Non-Syndromic and Syndromic Craniosynostosis in Swed…: Ingenta Connect

  https://www.ingentaconnect.com/content/wk/scs/2022/00000033/00000005/art00093

  Premature craniosynostosis is a rare condition, with a wide range of incidence estimations in the literature. The aim of this study was to establish the current incidence among the Swedish population. […] Results show an incidence of 7.7 cases per 10,000 live births, including 0.60/10,000 syndromic craniosynostosis. […] Due to information programs among health care staff and a system for early diagnosis through rapid communication, these results seem to mirror the true incidence of craniosynostosis in the Swedish population. The updated incidence data will facilitate healthcare planning and make future studies of possible changes in craniosynostosis incidence more accurate.

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