Results 21 to 30 of about 1,397 (164)
Nosology of genetic skeletal disorders: 2023 revision
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023 Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger +20 more
wiley +1 more source
Evaluation of Low-Dose 3D Skull CT Images in Craniosynostosis [PDF]
Iranian Journal of Medical Physics, 2022 Introduction: Computed Tomography (CT) is nowadays used widely to differentiate normal brain cranium sutures from abnormal ones in pediatric patients with the aim of early treatment.
Fariba Zarei +4 more
doaj +1 more source
De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Case Reports in Genetics, Volume 2022, Issue 1, 2022., 2022 Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short‐ and long‐term outcomes and ...
Rafat Mosalli +5 more
wiley +1 more source
Journal of Cellular and Molecular Medicine, Volume 25, Issue 7, Page 3216-3225, April 2021., 2021 Abstract Craniosynostosis refers to the premature fusion of one or more cranial sutures leading to skull shape deformities and brain growth restriction. Among the many factors that contribute to abnormal suture fusion, mechanical forces seem to play a major role.
Maira Katsianou +8 more
wiley +1 more source
Morphometry and morphology of rostral cranial fossa in brachycephalic dogs - CT studies.
PLoS ONE, 2020 Hydrocephalus occurs more often in brachycephalic individuals of different species. Detailed analysis of rostral cranial fossa-region of cerebrospinal fluid outflow-is necessary to understand causes leading to hydrocephalus in specimens with shortened ...
Wojciech Sokołowski +6 more
doaj +2 more sources
Lessons from joint development for cartilage repair in the clinic
Developmental Dynamics, Volume 250, Issue 3, Page 360-376, March 2021., 2021 Abstract More than 250 years ago, William Hunter stated that when cartilage is destroyed it never recovers. In the last 20 years, the understanding of the mechanisms that lead to joint formation and the knowledge that some of these mechanisms are reactivated in the homeostatic responses of cartilage to injury has offered an unprecedented therapeutic ...
Anne‐Sophie Thorup +2 more
wiley +1 more source
International Journal of Medical Students, 2013 Fibroblast growth factor receptor (FGFR) gain-of-function mutations form the pathogenic basis of multiple congenital pathologies. A pioneering body of work over the past two decades has established that a unique mutation selection process within the ...
Stuart J. Mires
doaj +1 more source
Crouzon syndrome and the eye: An overview
Indian Journal of Ophthalmology, 2022 The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of
Kasturi Bhattacharjee +7 more
doaj +1 more source
Archives of Plastic Surgery, 2018 Background Non-syndromic craniosynostosis causes craniofacial asymmetry and may persist after cranioplasty. These postoperative asymmetries are primarily depressions.
Yanko Castro-Govea +2 more
doaj +1 more source
Pitfalls in counselling: the craniosynostoses. [PDF]
Journal of Medical Genetics, 1991 We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members.
R, Marini +4 more
openaire +2 more sources