Results 61 to 70 of about 24,851 (250)

Frontofacial Features of Unilateral Lambdoid Craniosynostosis: A Multicenter Assessment

Plastic and Reconstructive Surgery, Global Open, 2023
Background:. Unilateral lambdoid craniosynostosis is differentiated from deformational plagiocephaly primarily by assessing the cranium from posterior and bird’s-eye views.
Jonathan Lee, MD, Sanjay Naran, MD, Daniel Mazzaferro, MD, Ari Wes, MD, Erin E. Anstadt, MD, Jesse Taylor, MD, Jesse Goldstein, MD, Scott Bartlett, MD, Joseph Losee, MD   +8 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

The management of perioperative pain in craniosynostosis repair: a systematic literature review of the current practices and guidelines for the future

Maxillofacial Plastic and Reconstructive Surgery, 2022
Background Craniosynostosis is a condition characterized by a premature fusion of one or more cranial sutures. The surgical repair of craniosynostosis causes significant pain for the child.
Hatan Mortada, Raghad AlKhashan, Nawaf Alhindi, Haifa B. AlWaily, Ghada A. Alsadhan, Saad Alrobaiea, Khalid Arab   +6 more
doaj   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Sp1-activated FGFR2 is involved in early-life exposure to nickel-induced craniosynostosis by regulating the ERK1/2 signaling pathway

Environment International
Nickel, a common environmental hazard, is a risk factor for craniosynostosis. However, the underlying biological mechanism remains unclear. Here, we found that early-life nickel exposure induced craniosynostosis in mice.
Zhenkun Weng, Cheng Xu, Xiu Chen, Qing Yan, Zuqiang Fu, Jian Jiao, Jin Xu, Qian Liu, Dongmei Wang, Jingjia Liang, Wenxiang Li, Aihua Gu   +11 more
doaj   +1 more source

Automated surgical planning in spring-assisted sagittal craniosynostosis correction using finite element analysis and machine learning.

PLoS ONE, 2023
Sagittal synostosis is a condition caused by the fused sagittal suture and results in a narrowed skull in infants. Spring-assisted cranioplasty is a correction technique used to expand skulls with sagittal craniosynostosis by placing compressed springs ...
Jenson Jacob, Selim Bozkurt
doaj   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush, Fletcher, Steven, Metalwala, Zohra, Okunseri, Christopher   +3 more
core   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

European Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman, Virgil A. S. H. Dalm, Marieke Joosten, Frans J. Smiers, Leendert Porcelijn, Arjan Hoogendijk, Hans Janssen, Nicole N. van der van der Wel, Idske C. L. Kremer Hovinga, Masja de Haas, Marjon H. Cnossen   +10 more
wiley   +1 more source