Craniosynostosis 1

Common Name(s)

Craniosynostosis 1

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability ({8:Fitzpatrick, 2013}). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; {604757}) is caused by mutation in the MSX2 gene ({123101}) on chromosome 5q. Craniosynostosis-3 ({615314}) is caused by mutation in the TCF12 gene ({600480}) on chromosome 15q21. Craniosynostosis-4 ({600775}) is caused by mutation in the ERF gene ({611888}) on chromosome 19q13.
 

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Condition Specific Organizations

Following organizations serve the condition "Craniosynostosis 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Craniosynostosis 1" returned 4 free, full-text research articles on human participants. First 3 results:

Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
 

Author(s): Omar A Ibrahimi, Fuming Zhang, Anna V Eliseenkova, Robert J Linhardt, Moosa Mohammadi

Journal: Hum. Mol. Genet.. 2004 Jan;13(1):69-78.

 

Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively. Here, we characterize the effects of proline-->arginine ...

Last Updated: 16 Dec 2003

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Craniosynostosis in transgenic mice overexpressing Nell-1.
 

Author(s): Xinli Zhang, Shun'ichi Kuroda, Dale Carpenter, Ichiro Nishimura, Chia Soo, Rex Moats, Keisuke Iida, Eric Wisner, Fei-Ya Hu, Steve Miao, Steve Beanes, Catherine Dang, Heleni Vastardis, Michael Longaker, Katsuyuki Tanizawa, Norihiro Kanayama, Naoaki Saito, Kang Ting

Journal: J. Clin. Invest.. 2002 Sep;110(6):861-70.

 

Previously, we reported NELL-1 as a novel molecule overexpressed during premature cranial suture closure in patients with craniosynostosis (CS), one of the most common congenital craniofacial deformities. Here we describe the creation and analysis of transgenic mice overexpressing ...

Last Updated: 17 Sep 2002

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Increased osteoblast apoptosis in apert craniosynostosis: role of protein kinase C and interleukin-1.
 

Author(s): J Lemonnier, E Haÿ, P Delannoy, O Fromigué, A Lomri, D Modrowski, P J Marie

Journal: Am. J. Pathol.. 2001 May;158(5):1833-42.

 

Apert syndrome is an autosomal dominant disorder characterized by premature cranial ossification resulting from fibroblast growth factor receptor-2 (FGFR-2)-activating mutations. We have studied the effects of the prominent S252W FGFR-2 Apert mutation on apoptosis and the underlying ...

Last Updated: 4 May 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Craniosynostosis 1" returned 2 free, full-text review articles on human participants. First 3 results:

The role of NELL-1, a growth factor associated with craniosynostosis, in promoting bone regeneration.
 

Author(s): X Zhang, J Zara, R K Siu, K Ting, C Soo

Journal: J. Dent. Res.. 2010 Sep;89(9):865-78.

 

Efforts to enhance bone regeneration in orthopedic and dental cases have grown steadily for the past decade, in line with increasingly sophisticated regenerative medicine. To meet the unprecedented demand for novel osteospecific growth factors with fewer adverse effects compared with ...

Last Updated: 20 Aug 2010

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De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
 

Author(s): F Speleman, M Craen, J Leroy

Journal: J. Med. Genet.. 1989 Aug;26(8):528-32.

 

A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not ...

Last Updated: 3 Oct 1989

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Symptoms, Diagnosis, and Treatment

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