Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/SCS.0000000000006729 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.
BMC Med Genomics
December 2024
Department of Neurorehabilitation, Affiliated Women's and Children's Hospital of Qingdao University, No. 6 Tongfu Road, Qingdao, 266000, Shandong, China.
Background: Kleefstra syndrome spectrum (KLEFS) is an autosomal dominant disorder that can lead to intellectual disability and autism spectrum disorders. KLEFS encompasses Kleefstra syndrome-1 (KLEFS1) and Kleefstra syndrome-2 (KLEFS2), with KLEFS1 accounting for more than 75%. However, limited information is available regarding KLEFS2.
View Article and Find Full Text PDFSoftware-assisted bone thickness evaluation in patients with syndromic craniosynostosis undergoing Le Fort III osteotomy: a technical note.
Int J Oral Maxillofac Surg
November 2024
Department of Maxillofacial Surgery, Careggi University Hospital, Florence, Italy; Department of Neurosurgery, Meyer Children's Hospital IRCCS and ERN Cranio, Florence, Italy.
The aim of this study was to assess the value of the use of software for the preoperative evaluation of cranial bone thickness in syndromic patients undergoing Le Fort III osteotomy. Four patients were evaluated preoperatively to determine whether they were eligible for distraction osteogenesis. Data from the computed tomography scans was evaluated using advanced reverse engineering tools to determine the temporal bone thickness.
View Article and Find Full Text PDFLong-term photogrammetric outcomes of midface advancement in Apert syndrome: are we nearing normal?
Childs Nerv Syst
December 2024
Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Background: The aesthetic goals of midface surgery in Apert syndrome are to correct the multi-planar midface deficiency and normalize facial ratios. This study characterizes the long-term photogrammetric outcomes of midface advancement in Apert syndrome.
Methods: Patients with Apert syndrome who underwent midface distraction from 2000 to 2023 were retrospectively reviewed.
Successful reverse total shoulder replacement in a patient with Apert syndrome.
Shoulder Elbow
April 2024
Sydney Shoulder Research Institute, St Leonards, Australia.
Apert syndrome, first described in the literature by a French pediatrician Eugene Apert, is a rare congenital form of acrocephalodactyly with autosomal dominant inheritance. Classically, this syndrome is characterized by craniosynostosis, midface hypoplasia, and symmetrical syndactyly of hands and feet resulting from embryonic anomalies during the third week of gestation. It is also associated with a variety of abnormalities of the viscera, involving the neurological, genitourinary, and cardiorespiratory systems.
View Article and Find Full Text PDFExosome-mediated small interfering RNA delivery inhibits aberrant osteoblast differentiation in Apert syndrome model mice.
Arch Oral Biol
September 2023
Department of Maxillofacial Orthognathics, Division of Maxillofacial and Neck Reconstruction, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45, Bunkyo-ku, Tokyo 113-8549, Japan.
Objective: Apert syndrome, an autosomal dominant congenital disorder characterized by craniosynostosis, is caused by a missense mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2). Exosomes are naturally occurring carriers that deliver nucleic acids, including small interfering RNA (siRNA), to induce gene silencing. This study aimed to develop siRNA-loaded exosomes (Ex-siRNA) to silence the Fgfr2 gain-of-function mutation, thereby inhibiting the increased osteoblastic differentiation caused by the constitutive activation of FGFR2 signaling in calvarial osteoblastic cells isolated from Apert syndrome model mice.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!