Results 41 to 50 of about 2,067 (196)
The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]
, 2016 Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A. +3 more
core +3 more sources
Congenital malformations [PDF]
, 2012 Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core +1 more source
The Relationship between Brachycephalic Head Features in Modern Persian Cats and Dysmorphologies of the Skull and Internal Hydrocephalus [PDF]
, 2017 Background: Cat breeders observed a frequent occurrence of internal hydrocephalus in Persian cats with extreme brachycephalic head morphology. Objective: To investigate a possible relationship among the grade of brachycephaly, ventricular dilatation ...
Enderlein, S. +10 more
core +2 more sources
Pictorial essay: The many faces of craniosynostosis
Indian Journal of Radiology and Imaging, 2011 Craniosynostosis is a common condition in the pediatric age group, which may either be isolated or may present as part of a craniofacial syndrome. This pictorial review illustrates the underlying mechanisms and pathophysiology of craniosynostosis, the ...
Paritosh C Khanna +3 more
doaj +1 more source
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]
, 2015 Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa +2 more
core +2 more sources
Journal of Oral Biology and Craniofacial Research, 2021 Background: Craniosynostosis (CS) is a congenital birth defect characterized by the premature fusion of one or several calvarial suture(s). CS could lead to serious complications, such as intracranial hypertension and neurodevelopmental impairment. There
Kenzy Abdelhamid +4 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
An exploration of the cognitive, physical and psychosocial development of children with Apert syndrome [PDF]
, 2016 Apert syndrome is a rare condition, with a birth prevalence of approximately 1 in 65 000. This article provides an up to date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts.
Hilton, C
core +1 more source
Romanian Journal of Laboratory Medicine, 2018 Molecular genetic testing in craniosynostosis leads to the detection of the mutations in the genes encoding fibroblast growth factor receptors (FGFR), providing information about the etiology of the genetic disorder.
Bogliş Alina +2 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Objective: Evidence for the duration of perioperative antibiotic prophylaxis (PAP) after the correction of craniosynostosis in children is scarce. We evaluated the necessary duration of PAP to ensure a minimal rate of postoperative wound infections ...
Johannes Holle +10 more
doaj +1 more source