Results 71 to 80 of about 5,244 (207)
Iranian Rehabilitation Journal, 2012 Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System.
Masoud Gharib, Nazila Akbar Fahimi
doaj
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 +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 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 +9 more
doaj +1 more source
Surface-bounded growth modeling applied to human mandibles [PDF]
, 2000 From a set of longitudinal three-dimensional scans of the same anatomical structure, we have accurately modeled the temporal shape and size changes using a linear shape model.
Bjarne K. Ersbøll +8 more
core +3 more sources
American Journal of Human Biology, Volume 38, Issue 2, February 2026.ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi +4 more
wiley +1 more source
A deletion of
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 +3 more
doaj +1 more source
Electrocardiographic variables in children with syndromic craniosynostosis and primary snoring to mild obstructive sleep apnea [PDF]
, 2018 Background: In the spectrum of children with symptomatic sleep disordered breathing (SDB), some individuals – such as those with upper airway resistance syndrome (UARS) – do not have abnormalities on polysomnography (PSG).
Corel, L.J.A. (Linda) +6 more
core +3 more sources
Journal of Small Animal Practice, Volume 67, Issue 2, Page 105-111, February 2026.Objectives This study aimed to examine the association between pterygoid bone medialisation and treatment outcomes after upper airway surgery in three brachycephalic breeds. Materials and Methods Dogs that underwent CT of the head followed by routine surgery for brachycephalic obstructive airway syndrome were recruited in this study.
S. L. Yuen +3 more
wiley +1 more source
Patterns of brain growth in one FGFR2 mouse model for Apert Syndrome [PDF]
, 2010 Apert syndrome is a disorder associated with craniosynostosis resulting from one of two mutations in Fibroblast Growth Factor Receptor 2 (FGFR2). Individuals with Apert syndrome demonstrate brain dysmorphology, often associated with cognitive deficits ...
Austin, Jordan +2 more
core