Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes are associated with craniosynostosis. This article describes some commonalities and distinguishing features and management of syndromic synostosis. Also addressed is secondary synostosis, which is often found in syndromic children with problems related to microcephaly, hydrocephalus, or shunt-induced craniosynostosis, although pathophysiologically and genetically different. The importance of obtaining a thorough history and a complete physical and examination is highlighted. Adjuvant testing and multidisciplinary management are discussed.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.fsc.2016.06.008 | DOI Listing |
J Craniomaxillofac Surg
January 2025
Private Clinic, Cinnah street, No:37/26, Ankara, Turkey. Electronic address:
Craniosynostosis causes functional and aesthetic problems that require fronto-orbital advancement in patients to correct the cranial deformity and to prevent functional problems due to increased intracranial pressure (ICP). In this study, demographic information, operative details, preoperative clinical findings, and postoperative outcomes were reviewed for 106 craniosynostosis patients with at least 1 year of follow-up. Many factors such as functional losses due to increased ICP before surgery, resynostosis, fronto-orbital relapse, surgical complications and aesthetic results were compared in syndromic and non-syndromic patients.
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
Department of Plastic and Reconstructive Surgery, Nationwide Children's Hospital, Columbus, OH, USA.
To describe the frequency and types of hearing loss in children with syndromic and non-syndromic craniosynostosis. Retrospective cohort study. Large tertiary pediatric hospital.
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
Objectives: Orofacial cleft (OC) can be classified into syndromic orofacial cleft (SOC) and non-syndromic orofacial cleft (NSOC), depending on whether there are other congenital deformities. Craniosynostosis, the premature closure of cranial sutures, is a common phenotype of SOC resulting in abnormal ossification of skull and brain development disorders. Its correlation with OC offers a promising approach to identify susceptibility genes for NSOC by examining causative genes of SOCs with craniosynostosis.
View Article and Find Full Text PDFBone Res
January 2025
Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Paris, France.
Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and Fgfr3-activating mutations on mandibular bone formation and endochondral bone repair after non-stabilized mandibular fractures in mouse models of Crouzon syndrome (Crz) and hypochondroplasia (Hch).
View Article and Find Full Text PDFJ Craniofac Surg
November 2024
Department of Plastic Surgery, University of Texas Southwestern Medical Center.
Papilledema is swelling of the optic disk due to fluid accumulation around the optic nerve and is commonly used to detect increased intracranial (ICP) in craniosynostosis. This study aimed to assess the prevalence and utility of papilledema detection in patients with single-suture, multi-suture, and syndromic craniosynostosis and the differences before and after surgical intervention. A retrospective review of ophthalmology examinations of patients diagnosed with craniosynostosis treated between 2008 and 2023 was performed.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!