Results 61 to 70 of about 1,223,696 (186)

Controversies Surrounding Critical‐Size Defects: Influence of Age and Biological Characteristics

Journal of Biomedical Materials Research Part B: Applied Biomaterials, Volume 114, Issue 6, June 2026.
ABSTRACT Critical‐size defects (CSDs) in craniofacial reconstruction refer to osseous gaps that fail to heal spontaneously, increasing the risk of neurological impairment and craniofacial dysmorphology. Despite decades of investigation, controversy still exists surrounding the definition of CSDs, with criteria varying across species, experimental ...
Andrew Nordlund, Hana Shah, Nicholas A. Mirsky, Kashyap K. Tadisina, Arturo J. Rios‐Diaz, Vasudev Vivekanand Nayak, Estevam A. Bonfante, Paulo G. Coelho   +7 more
wiley   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

BMC Medical Genetics, 2011
Background Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and FGFR2c respectively) with ...
Klatt Regan EM, Bowdin Sarah C, Fenwick Aimee L, Wilkie Andrew OM   +3 more
doaj   +1 more source

FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. [PDF]

PLoS ONE, 2011
The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication and pattern formation in many tissue types (e.g., osseous, nervous, vascular).
Neus Martínez-Abadías, Yann Heuzé, Yingli Wang, Ethylin Wang Jabs, Kristina Aldridge, Joan T Richtsmeier   +5 more
doaj   +1 more source

Apert Syndrome: New Treatment and a Perspective for the Future [PDF]

, 2015
Treatment the Apert Syndrome is unique, therefore, divergences exist in the priority of the procedures performed by each team. The Apert Syndrome occurs in approximately 1/65,000 births and accounts for 4.5% of all craniosynostosis. Some changes in Apert
Gonçalves Pinheiro, Patrícia, Rolim Neto, Modesto Leite, Braga, Hiroe Alencar, Gonçalves Leite, Bruno, Caldas Lins, Hellen Lúcia, Barbosa do Nascimento, Vânia, de Matos Cassiano, Cícera Janielly, Silva Damasceno, Kécia, Tavares Filgueiras, Ana Beatriz, Batista Pereira, Janaina   +9 more
core  

Intronic Single Nucleotide Polymorphisms in FGFR2 Gene Association With Non‐Syndromic Mandibular Retrognathism

Orthodontics &Craniofacial Research, Volume 29, Issue 3, Page 538-545, June 2026.
ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis, Christian Kirschneck, Daniel Hemming, Eva Paddenberg‐Schubert, Peter Proff, Daniela Silva Barroso de Oliveira, Cristiano Miranda de Araujo, Flares Baratto‐Filho, Svenja Beisel‐Memmert, Erika Calvano Küchler   +9 more
wiley   +1 more source

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

Plastic and Reconstructive Surgery, Global Open, 2019
Background:. Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies may be due to anatomic deformities, which may be caused by different forms of ...
Xiaona Lu, MD, Rajendra Sawh-Martinez, MD, MHS, Antonio Jorge Forte, MD, Robin Wu, BS, Raysa Cabrejo, BS, Alexander Wilson, BS, Derek M. Steinbacher, MD, DMD, Michael Alperovich, MD, Nivaldo Alonso, MD, PhD, John A. Persing, MD   +9 more
doaj   +1 more source

The clinical-genetic particularities in Apert syndrome [PDF]

, 2018
Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of MoldovaBackground. Apert syndrome (AS) is a dominant autosomal genetic disorder caused by heterogeneous mutation in FGFR2 genes on chromosome 10q26 and belongs to a group ...
Nadjmacova, Olga, Țurcanu, Tatiana
core   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Apert Syndrome: Intraoperative and Postoperative Hyponatremia

, 2019
Apert syndrome is one of the acrocephalosyndactilia syndromes that is characterized with calvarial an extremity deformities. Anesthesia management of this syndrome is commonly related with difficult airway.
Isin Gencay, Gencay, Isin
core   +1 more source