Results 41 to 50 of about 13,286 (221)
Impact of data synthesis strategies for the classification of craniosynostosis
Frontiers in Medical Technology, 2023 IntroductionPhotogrammetric surface scans provide a radiation-free option to assess and classify craniosynostosis. Due to the low prevalence of craniosynostosis and high patient restrictions, clinical data are rare.
Matthias Schaufelberger +10 more
doaj +1 more source
PATIENT SPECIFIC SURGICAL TREATMENT IN CRANIOSYNOSTOSIS [PDF]
, 2022 openIntroduzione: la pianificazione chirurgica virtuale rappresenta un presidio largamente utilizzato in chirurgia ortognatica e nelle complesse ricostruzioni del distretto cranio-maxillo-facciale.
BARRELLA, CATERINA
core
Fronto-orbital advancement: Revisited
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2015 Introduction: Craniosynostosis is a pathologic condition resulting from the premature fusion of cranial vault sutures, resulting in craniofacial deformities.
Derick Mendonca +2 more
doaj +1 more source
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
Case Reports in Genetics, 2022 Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development.
Jonas Gustafson +3 more
doaj +1 more source
RGO: Revista Gaúcha de Odontologia, 2022 Shprintzen-Goldberg craniosynostosis syndrome, characterized by craniosynostosis and marfanoid habitus, is a very rare entity described in 75 individuals worldwide.
Danielle Monsores VIEIRA +5 more
doaj +1 more source
PLoS ONE, 2020 Craniosynostosis is the premature fusion of cranial bones. The goal of this study was to determine if delivery of recombinant tissue nonspecific alkaline phosphatase (TNAP) could prevent or diminish the severity of craniosynostosis in a C57BL/6 ...
Hwa Kyung Nam +3 more
doaj +1 more source
Syndromic Craniosynostosis [PDF]
Seminars in Plastic Surgery, 2012 Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs ...
Christopher, Derderian, James, Seaward
openaire +2 more sources
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Anthropometry of craniosynostosis
Neurologia i Neurochirurgia Polska, 2015 Anthropometry is becoming a popular method for diagnostics of various diseases in pediatric clinical practice. The aim of this study was to assess the growth changes in craniofacial parameters in patients with craniosynostosis and positional plagiocephaly.Inclusion criteria for the study were presence of craniostenosis or positional plagiocephaly in a ...
Eva Štefánková +5 more
openaire +3 more sources
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source