Genetic study of nonsyndromic coronal craniosynostosis

Lajeunie, E; Merrer, Martine Le; Bonaïti‐Pellié, Catherine; Marchac, Daniel; Rénier, Dominique

doi:10.1002/ajmg.1320550422

Cited by 343 publications

(213 citation statements)

References 22 publications

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“…Population based estimates of craniosynostosis reveal a birth prevalence of 343/1,000,000 (0.03%) for all craniosynostosis cases [Cohen and Maclean, 2000]. The birth prevalence of nonsyndromic coronal synostosis in the general population is estimated as 94/1,000,000 (0.01%) [Lajeunie et al, 1995]. We have examined 230 probands with AGS through the Alagille Syndrome Diagnostic Center (ASDC) at The Children's Hospital of Philadelphia.…”

Section: Discussionmentioning

confidence: 99%

Craniosynostosis in Alagille syndrome

et al. 2002

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Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems. Alagille syndrome is caused by mutations in the Jagged1 gene. Jagged1 is a ligand in the Notch signaling pathway that has been shown to regulate early cell fate determination. Mutations in Jagged1 have been identified in approximately 80% of patients with Alagille syndrome. We have recently identified two patients with mutation proven Alagille syndrome who also had unilateral coronal craniosynostosis. Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified. The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in Jagged1 may indicate that Jagged1 plays a role in cranial suture formation. © 2002 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Craniosynostosis in Alagille syndrome

et al. 2002

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“…Craniosynostosis has a reported incidence of approximately one in 2000 to 2500 live births world-wide (15,16). Premature fusion of cranial sutures leads to a restriction of brain growth and can result in a dysmorphic cranial vault, as well as a multitude of serious functional and morphologic consequences.…”

Section: Craniosynostosismentioning

confidence: 99%

Tissue Engineering in Cleft Palate and Other Congenital Malformations

et al. 2008

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ABSTRACT:Contributions from multidisciplinary investigations have focused attention on the potential of tissue engineering to yield novel therapeutics. Congenital malformations, including cleft palate, craniosynostosis, and craniofacial skeletal hypoplasias represent excellent targets for the implementation of tissue engineering applications secondary to the technically challenging nature and inherent inadequacies of current reconstructive interventions. Apropos to the search for answers to these clinical conundrums, studies have focused on elucidating the molecular signals driving the biologic activity of the aforementioned maladies. These investigations have highlighted multiple signaling pathways, including Wnt, fibroblast growth factor, transforming growth factor-␤, and bone morphogenetic proteins, that have been found to play critical roles in guided tissue development. Furthermore, a comprehensive knowledge of these pathways will be of utmost importance to the optimization of future cell-based tissue engineering strategies. The scope of this review encompasses a discussion of the molecular biology involved in the development of cleft palate and craniosynostosis. In addition, we include a discussion of craniofacial distraction osteogenesis and how its applied forces influence cell signaling to guide endogenous bone regeneration.

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“…Craniosynostosis occurs one in 2000 infants. It is provoked by early fusion of the cranial sutures [1] Suture divides into following categories depending on its type: sagittal, bicoronal, unicoronal, metopic, and lambdoid Craniosynostosis. This affects the pressure of the brain and skull growth.…”

Section: Introductionmentioning

confidence: 99%

Automatical Cranial Suture Detection based on Thresholding Method

Park¹,

Kang²,

Kim³

et al. 2015

Journal of International Society for Simulation Surgery

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PurposeZZThe head of infants under 24 months old who has Craniosynostosis grows extraordinarily that makes head shape unusual. To diagnose the Craniosynostosis, surgeon has to inspect computed tomography(CT) images of the patient in person. It's very time consuming process. Moreover, without a surgeon, it's difficult to diagnose the Craniosynostosis. Therefore, we developed technique which detects Craniosynostosis automatically from the CT volume.Materials and MethodsZZAt first, rotation correction is performed to the 3D CT volume for detection of the Craniosynostosis. Then, cranial area is extracted using the iterative thresholding method we proposed. Lastly, we diagnose Craniosynostosis by analyzing centroid relationships of clusters of cranial bone which was divided by cranial suture.ResultsZZUsing this automatical cranial detection technique, we can diagnose Craniosynostosis correctly. The proposed method resulted in 100% sensitivity and 90% specificity. The method perfectly diagnosed abnormal patients.ConclusionZZBy plugging-in the software on CT machine, it will be able to warn the possibility of Craniosynostosis. It is expected that early treatment of Craniosynostosis would be possible with our proposed algorithm.

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Genetic study of nonsyndromic coronal craniosynostosis

Cited by 343 publications

References 22 publications

Craniosynostosis in Alagille syndrome

Craniosynostosis in Alagille syndrome

Tissue Engineering in Cleft Palate and Other Congenital Malformations

Automatical Cranial Suture Detection based on Thresholding Method

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