The clinical manifestations, molecular mechanisms and treatment of craniosynostosis

E Stanton, M Urata, JF Chen… - Disease Models & …, 2022 - journals.biologists.com
Craniosynostosis is a major congenital craniofacial disorder characterized by the premature
fusion of cranial suture (s). Patients with severe craniosynostosis often have impairments in …

Neurodevelopment of children with single suture craniosynostosis: a review

KA Kapp-Simon, ML Speltz, ML Cunningham… - Child's Nervous …, 2007 - Springer
Introduction Rates of neurocognitive risk range from 35–50% of school-aged children with
isolated single suture craniosynostosis (SSC). It has been hypothesized that early surgical …

[HTML][HTML] Guideline for care of patients with the diagnoses of craniosynostosis: working group on craniosynostosis

IMJ Mathijssen - Journal of Craniofacial Surgery, 2015 - journals.lww.com
This guideline for care of children with craniosynostosis was developed by a national
working group with representatives of 11 matrix societies of specialties and the national …

Genetics of craniosynostosis

V Kimonis, JA Gold, TL Hoffman, J Panchal… - Seminars in pediatric …, 2007 - Elsevier
Craniosynostosis is a defect of the skull caused by early fusion of one or more of the cranial
sutures and affects 3 to 5 individuals per 10,000 live births. Craniosynostosis can be divided …

Posterior calvarial vault expansion using distraction osteogenesis

N White, M Evans, MS Dover, P Noons, G Solanki… - Child's Nervous …, 2009 - Springer
Objectives Management of raised intracranial pressure in syndromic multi-suture
craniosynostosis by cranial vault expansion can be achieved by a number of techniques. We …

[HTML][HTML] Metopic synostosis

J Van Der Meulen - Child's Nervous System, 2012 - Springer
Premature closure of the metopic suture results in a growth restriction of the frontal bones,
which leads to a skull malformation known as trigonocephaly. Over the course of recent …

What's new in syndromic craniosynostosis surgery?

JA Taylor, SP Bartlett - Plastic and Reconstructive Surgery, 2017 - journals.lww.com
Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes are the five most
common forms of syndromic craniosynostosis. Although each has different genetic …

Speech, cognitive, and behavioral outcomes in nonsyndromic craniosynostosis

DB Becker, JD Petersen, AA Kane… - Plastic and …, 2005 - journals.lww.com
Background: The neuropsychological morbidity of nonsyndromic craniosynostosis is
incompletely understood. The purpose of this study was to establish the prevalence of …

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

V Shukla, X Coumoul, RH Wang, HS Kim, CX Deng - Nature genetics, 2007 - nature.com
Premature fusion of one or more of the cranial sutures (craniosynostosis) in humans causes
over 100 skeletal diseases, which occur in 1 of∼ 2,500 live births,,. Among them is Apert …

A Ser250Trp substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis

L Chen, D Li, C Li, A Engel, CX Deng - Bone, 2003 - Elsevier
Apert syndrome (AS) is one of the most severe craniosynostoses and is characterized by
premature fusion of craniofacial sutures. Mutations of either Ser252Trp or Pro253Arg in …