Premature craniosynostosis is a rare condition, with a wide range of incidence estimations in the literature. The aim of this study was to establish the current incidence among the Swedish population. Since the surgical care for these children is centralized to the 2 centers of Sahlgrenska University Hospital and Uppsala University Hospital, the 2 craniofacial hospital registries were examined for surgically treated children, all having a computed tomography verified diagnosis. Results show an incidence of 7.7 cases per 10,000 live births, including 0.60/10,000 syndromic craniosynostosis. Due to information programs among health care staff and a system for early diagnosis through rapid communication, these results seem to mirror the true incidence of craniosynostosis in the Swedish population. The updated incidence data will facilitate healthcare planning and make future studies of possible changes in craniosynostosis incidence more accurate.
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http://dx.doi.org/10.1097/SCS.0000000000008457 | DOI Listing |
J 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 PDFJ Craniofac Surg
November 2024
Division of Plastic and Reconstructive Surgery, Stanford University School of Medicine.
Background: Posterior vault distraction osteogenesis (PVDO) is an effective treatment for multisuture and syndromic craniosynostosis. It remains unclear how well the calvarium ossifies after PVDO, especially in older patients when they have plateaued in their cranial growth phase. The purpose of this study is to report outcomes associated with PVDO across a wide range of ages at our institution.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
Cleft Palate Craniofac J
January 2025
Division of Plastic and Reconstructive Surgery, Oregon Health & Science University, Portland, OR, USA.
Craniosynostosis is rarely diagnosed in utero. Prenatal diagnosis has the potential to improve patient outcomes and streamline care, however, and is becoming more feasible as technology improves. The objective of this study is to examine existing literature on prenatal diagnosis of nonsyndromic craniosynostosis.
View Article and Find Full Text PDFBiochim Biophys Acta Mol Basis Dis
January 2025
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:
Cole-Carpenter syndrome (CCS) is a rare autosomal-dominant genetic disease characterized by craniosynostosis, ocular proptosis, hydrocephalus, distinctive facial features, and bone fragility. Previous cases of CCS are associated with genetic variations in P4HB, which encodes the protein disulfide isomerase (PDI), a key enzyme in protein folding. Patients with CCS caused by P4HB mutations often present with short stature, limb deformities, and abnormal epiphyseal plates.
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