Genetics of Craniosynostosis

Kimonis, Virginia; Gold, June Anne; Hoffman, Trevor L.; Panchal, Jayesh; Boyadjiev, Simeon A.

doi:10.1016/j.spen.2007.08.008

Cited by 169 publications

(167 citation statements)

References 60 publications

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“…Gain-offunction mutations in FGFR1 and FGFR3 have been associated with syndromes related to craniosynostosis, as well as mutations in several transcription factors of the same pathway (e.g. loss-of-function due to mutation in TWIST1, which is thought to negatively regulate FGFR1) [1].…”

Section: Etiology and Geneticsmentioning

confidence: 99%

“…It is a common condition that occurs in about 1 to 2,000 live births [1]. Craniosynostosis may be classified in primary (caused by an intrinsic defect on the suture) or secondary (caused by other medical conditions, such as deficient brain growth) [1] and may also be classified as nonsyndromic (when it is isolated) or syndromic (when associated with other congenital anomalies) [2]. Premature closure of sagittal, bicoronal and metopic sutures is associated with dolichocephaly (or scaphocephaly), brachycephaly and trigonocephaly, respectively.…”

Section: Introductionmentioning

confidence: 99%

“…Single-suture nonsyndromic synostosis comprises approximately 80% of craniosynostosis [3][4][5]. The frequency of the sutures involved is: sagittal, 40 to 58%; coronal 20 to 29%; metopic 4 to 10% and lambdoid 2 to 4% [1].…”

Section: Introductionmentioning

confidence: 99%

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Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

et al. 2016

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Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.

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Section: Etiology and Geneticsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

et al. 2016

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“…Daha önce de belirtildi i gibi, kraniyosinoztozlar günümüzde 10.000 do umda 3 ya da 5 bireyde görülmesine ra men (Kimonis et al, 2007), ya lar ndaki bir bireyde skafosefali tespit ettiklerini ve bu kafatas n n erken ya a ra men kay k biçimi alm oldu unu belirtmektedir. Kennedy et al (1993), Pakistan'daki Harappa antik kentinden bulunan ve M.Ö.…”

Section: Arkeolojik Topluluklarda Kraniyosinoztoz öRnekleriunclassified

Herakleia Perinthos (Marmara Ereğlisi) toplumunda erken sutur kaynaşması

Demirel¹,

Özkanli²

2014

Antropoloji

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“…A paternal age effect in de novo mutations in Fibroblastic Growth Factor-Receptor 2 gene has been conclusively shown at the molecular level in Apert syndrome. It has been hypothesized that mutations in Fibroblastic Growth Factor-Receptor 2 gene may convey an advantage in sperm because the Fibroblastic Growth Factor/Fibroblastic Growth Factor-Receptor pathway is known to be important in maintaining and initiating spermatogenesis (Kimonis et al, 2007). There is normally no neurodevelpmental disability in Marfan syndrome.…”

Section: Etiologies Of Intellectual and Developmental Disabilitymentioning

confidence: 99%