Editorial: Perspectives on craniosynostosis

Cohen, Michael

doi:10.1002/ajmg.a.30757

Cited by 82 publications

(88 citation statements)

References 48 publications

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“…Our finding that the sagittal suture was the most commonly affected suture is consistent with the findings of two previous studies [Kabbani and Raghuveer, 2004;Cohen, 2005]; our estimate of the birth prevalence of sagittal synostosis (1.9 per 10,000 live births) is consistent with that of Lajeunie et al [1996] (2 in 10,000 children); and our estimate of the birth prevalence of coronal synostosis (0.9 per 10,000 live births) is identical to that of Cohen [2000]; however, our estimate of the birth prevalence of metopic synostosis (0.9 per 10,000 live births) is slightly higher than previous estimates of 0.7 per 10,000 live births [Lajeunie et al, 1995;Cohen, 2000].…”

Section: Discussionsupporting

confidence: 95%

“…Premature fusion of the sagittal suture occurs most frequently and is present in 40-60% of all craniosynostosis cases. Synostosis of the coronal or metopic sutures is less common, and lambdoid synostosis is rare [Lajeunie et al, 1995;Aleck, 2004;Kabbani and Raghuveer, 2004;Cohen, 2005]. Craniosynostosis has been reported as a clinical feature in more than 100 genetic syndromes, the most common of which include Apert, SaethreChotzen, and Crouzon syndromes [Cohen, 2000;Katzen and McCarthy, 2000;Muenke and Wilkie, 2001;Kabbani and Raghuveer, 2004].…”

Section: Introductionmentioning

confidence: 98%

“…Craniosynostosis is classified according to the suture or sutures involved and whether it occurs as an isolated defect, as one of multiple major unrelated defects, or as part of a syndrome [Lajeunie et al, 1996;Aleck, 2004;Kabbani and Raghuveer, 2004;Cohen, 2005]. Premature fusion of the sagittal suture occurs most frequently and is present in 40-60% of all craniosynostosis cases.…”

Section: Introductionmentioning

confidence: 99%

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A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Boulet

Rasmussen

Honein

2008

American J of Med Genetics Pt A

313

253

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Craniosynostosis is a birth defect characterized by premature fusion of one or more cranial sutures. We describe the birth prevalence of craniosynostosis and related risk factors among infants born to residents of metropolitan Atlanta during 1989-2003. Data from the Metropolitan Atlanta Congenital Defects Program (MACDP) were used to identify infants with craniosynostosis. Case records with a code for craniosynostosis were reviewed to substantiate the diagnosis of craniosynostosis and to classify infants as having isolated craniosynostosis (no other unrelated major defects), multiple defects (one or more additional major, unrelated defects), or a syndrome (recognized or strongly suspected single-gene condition or chromosome abnormality). Vital records data on births of Georgia residents were used to analyze craniosynostosis prevalence by year of birth, maternal race and age, parity, plurality, and infants' sex, birth weight, and gestational age. We identified 281 infants born with craniosynostosis in metropolitan Atlanta during 1989-2003: 84% with isolated craniosynostosis, 7% with multiple defects, and 9% with syndromes. The birth prevalence was 4.3 per 10,000 births, results consistent with findings from other population-based studies using similar case definitions. Apert syndrome was diagnosed in 40% of the syndromic cases, and sagittal synostosis was diagnosed in 39% of the cases of nonsyndromic craniosynostosis. Maternal age 35 years or older, multiple birth, male sex, and birth weight >4,000 g were risk factors for craniosynostosis.

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Section: Discussionsupporting

confidence: 95%

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Boulet

Rasmussen

Honein

2008

American J of Med Genetics Pt A

313

253

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“…Untreated progressive craniosynostosis leads to inhibition of brain growth and increased intracranial and intraorbital pressure. Genetic and environmental factors are involved in the etiopathogeneses of these diseases, and more than 150 syndromes with this developmental defect have been characterized (1,2 ). The variety and overlap of the clinical phenotypes, particularly in the 1st months of life, make a precise clinical diagnosis difficult.…”

mentioning

confidence: 99%

“…Genetic studies have helped in elucidating the molecular bases of this complex and heterogeneous group of developmental disorders, thanks to the identification in a number of syndromes (e.g., Apert, Crouzon, Pfeiffer, and Saethre-Chotzen craniosynostosis) of mutations in fibro-blast growth factor receptor (FGFR) 7 genes and the TWIST1, MSX2, EFNB1, and ALPL genes (1,2 ). Most of the mutations have been found in FGFR2 and FGFR3.…”

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confidence: 99%

Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

et al. 2007

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Background: Craniosynostosis, the premature fusion of 1 or more sutures of the skull, is a common congenital defect, with a prevalence of 1 in 2500 live births. Untreated progressive craniosynostosis leads to inhibition of brain growth and increased intracranial and intraorbital pressure. The heterogeneity of clinical phenotypes and the overlap of the various associated syndromes render the correct diagnosis of the different craniosynostoses particularly difficult. Methods: To identify 10 common mutations in the genes for fibroblast growth factor receptors 2 and 3 (FGFR2 and FGFR3), we developed a microelectronic microchip assay that exploited the PCR multiplexing format and coupled it with serial addressing and probe hybridization on the same pad. For the molecular characterization of patients who tested negative in the microchip screening, we also developed conditions for denaturing HPLC (DHPLC) analysis of the most mutated regions of FGFR2 and FGFR3 and the entire coding region of the TWIST1 gene. Results: In our cohort of 159 patients with various craniosynostosis syndromes, mutations were found in

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Craniosynostosis Syndromes

Gripp

Zackai

2010

Management of Genetic Syndromes

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Editorial: Perspectives on craniosynostosis

Cited by 82 publications

References 48 publications

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003

Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

Craniosynostosis Syndromes

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