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Purpose: We examined differences in long-term morphometric outcomes of spring-mediated cranioplasty (SMC) for various forms of isolated nonsyndromic sagittal craniosynostosis.
Methods: A retrospective review was performed of children who underwent SMC from 2011 to 2020 at the Children's Hospital of Philadelphia. Cephalic indices (CI), Whitaker grades, parietal bone thickness, and degree of suture fusion were assessed. Frontal bossing and vertex-nasion-opisthocranion (VNO) angles were compared to a normal control group.
Results: Fifty-four subjects underwent surgery at age 3.6 ± 1.0 months with follow-up of 6.3 ± 1.8 years. Mean CI was 75.2 ± 4.1 at 5.9 ± 2.0 years postoperatively. Mean CI were 75.8 ± 4.1 (n = 32), 76.4 ± 4.0 (n = 22), and 77.1 ± 4.8 (n = 11) at 5, 7, and 9+ years postoperatively, respectively. Three (5.6%) required reoperation for persistent scaphocephalic cranial deformity. Fifty-one (94.4%) were Whitaker Grade I. On physical examination, 12 (22.2%) demonstrated craniofacial abnormalities. At long-term follow-up, there were no differences in frontal bossing angle (102.7 ± 5.2 degrees versus 100.7 ± 5.6 degrees, p = .052) and VNO angle (44.9 ± 3.3 degrees versus 43.9 ± 2.2 degrees, p = .063) between study and control groups. Younger age at surgery predicted a lower Whitaker grade, more normalized VNO angle, and greater change in CI during active expansion. Increased percentage fused of the posterior sagittal suture predicted a higher Whitaker grade, while decreased anterior fusion was associated with frontal bossing and temporal hollowing.
Conclusions: Overall, children undergoing spring-mediated cranioplasty for sagittal craniosynostosis demonstrated maintenance of CI, favorable cosmetic outcomes, and a low reoperation rate at mid-term follow-up. Early intervention is associated with improved aesthetic outcomes, and regional fusion patterns may influence long-term craniofacial dysmorphology.
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http://dx.doi.org/10.1007/s00381-024-06531-4 | DOI Listing |
Comput Biol Med
September 2025
Department of Bioengineering, College of Food Science, South China Agricultural University, Guangzhou, Guangdong, 510640, China. Electronic address:
Objective: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by mutations in the EFNB1 gene, which encodes the ephrin-B1 protein involved in craniofacial and neural development. This study aims to investigate the effects of a de novo heterozygous EFNB1 missense variant c.451G > A (p.
View Article and Find Full Text PDFPrenat Diagn
August 2025
Service de Médecine Génomique des maladies de système et d'organe, Fédération de Génétique et de Médecine Génomique, AP-HP.Centre-Université de Paris, Hôpital Cochin, Paris, France.
Objectives: Achondroplasia is the most common form of skeletal dysplasia and is usually suspected in the third trimester of pregnancy based on abnormal sonographic findings. Non-invasive prenatal diagnosis (NIPD), based on the detection of pathogenic FGFR3 variants in maternal plasma, provides an accurate genetic confirmation. The aim of this study was to identify the sonographic markers most strongly associated with achondroplasia, with the intention of enhancing the specificity of NIPD referrals and improving diagnostic efficiency, thereby supporting clinicians in their diagnostic approach.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
August 2025
Department of Rehabilitation Medicine, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.
To investigate the clinical features and elucidate the molecular pathogenesis of neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) associated with zinc finger protein 142 (ZNF142) gene variants. A retrospective case series analysis was performed. The clinical data were collected on 2 children diagnosed with NEDISHM at Children's Hospital of Nanjing Medical University in February 2025.
View Article and Find Full Text PDFJ Craniofac Surg
July 2025
University of Insubria, Varese, Italy.
Hyaluronic acid (HA) fillers have progressed from superficial wrinkle correction to tools for deep 3-dimensional facial remodeling. The forehead, once addressed exclusively through surgical procedures or botulinum toxin, can now be effectively reshaped using HA fillers. This retrospective study evaluates the long-term outcomes of forehead contouring in 38 patients (36 males, 2 females; mean age: 47.
View Article and Find Full Text PDFAm J Med Genet A
June 2025
Zhongshan City People's Hospital, Zhongshan City, Guangdong Province, China.
Apert syndrome (AS) is a rare autosomal dominant congenital disorder characterized by craniosynostosis, midfacial hypoplasia, and syndactyly. Most cases are caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, primarily S252W and P253R mutations, more than 98% resulting from de novo mutations. The FGFR2 gene encodes a receptor tyrosine kinase protein, which is essential for embryonic development and skeletal formation.
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