Craniosynostosis News and Research

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Scientists identify two genetic risk factors for sagittal craniosynostosis

Seattle Children's Research Institute, together with an international team of scientists and clinicians from 22 other institutions, have identified two genetic risk factors for the most common form of non-syndromic craniosynostosis, a birth defect in which the bony plates of an infant's skull prematurely fuse. The condition is known as sagittal craniosynostosis and often results in an abnormal head shape and facial features.

20 Nov 2012

Two genetic factors strongly associated with non-syndromic sagittal craniosynostosis

An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic craniosynostosis ― premature closure of the bony plates of the skull.

18 Nov 2012

New clues in the pathogenesis of skull and skin birth defects associated with BSS

Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome.

16 May 2012

FDA grant to foster development of novel pediatric medical devices

The U.S. Food and Drug Administration (FDA) has awarded the Georgia Institute of Technology, Children's Healthcare of Atlanta, Emory University and Saint Joseph's Translational Research Institute (SJTRI) a two-year, $1.8 million grant to foster the development of medical devices focused on the special needs of children.

13 Oct 2011

Developing technologies to improve treatment of craniosynostosis in babies

Engineers and surgeons are working together to improve the treatment of babies born with craniosynostosis, a condition that causes the bone plates in the skull to fuse too soon. Treating this condition typically requires surgery after birth to remove portions of the fused skull bones, and in some cases the bones grow together again too quickly -- requiring additional surgeries.

8 Sep 2011

New human syndrome features craniosynostosis, maxillary hyperplasia, delayed tooth eruption, extra teeth

Researchers at the University of Helsinki, Finland, have described a new, recessively inherited human syndrome featuring craniosynostosis, maxillary hyperplasia, delayed tooth eruption and extra teeth. The researchers also identified causative mutations in a gene IL11RA.

8 Jul 2011

Researchers discover new gene for Sensenbrenner syndrome

Dutch researchers of the Radboud University Medical Center in Nijmegen found a new gene for Sensenbrenner syndrome (Journal of Medical Genetics, 2011 Mar 4). The mutation adds support to the hypothesis that defects in ciliar transport are the cause of the disease. Project leader Dr. Heleen H. Arts is supported by a Kolff Junior Postdoc Grant of the Dutch Kidney Foundation.

14 Mar 2011

New book on craniosynostosis

Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation.

10 Mar 2011

Defect in cellular pathways provides new explanation for earliest stages of craniosynostosis in newborns

University of Rochester Medical Center scientists discovered a defect in cellular pathways that provides a new explanation for the earliest stages of abnormal skull development in newborns, known as craniosynostosis.

26 May 2010

New bone matrix implant offers hope for babies born with skull deformities

A synthetic bone matrix offers hope for babies born with craniosynostosis, a condition that causes the plates in the skull to fuse too soon. Implants replacing some of the infant's bone with the biodegradable matrix could eliminate some of the operations currently used to treat the condition.

19 Nov 2009

Discovery provides better understanding of craniosynostosis

Craniosynostosis develops in the womb and affects one in every 2500 live births. Bones in the skulls and face of sufferers fuse together prematurely causing a range of distressing developmental problems.

2 Mar 2009

Facial asymmetry persists despite surgery to correct congenital deformity

Adults and teens that underwent surgery as infants to correct a congenital condition that causes the forehead and face to appear uneven still have a degree of facial asymmetry years later, according to new research led by a Hasbro Children's Hospital surgeon.

27 Feb 2008

Physical traits, genetic test help with early diagnosis of aneurysm syndrome

A research team led by Johns Hopkins doctors has defined the physical traits and genetic basis of a new aortic aneurysm syndrome that is extremely aggressive and can cause death in early childhood. Early diagnosis of the syndrome and rapid surgical repair of the swollen aorta can save lives, the researchers report in the Jan. 30 advance online section of Nature Genetics.

30 Jan 2005