Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study
Birth Defects Research, Volume 116, Issue 2, February 2024.Abstract Background Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
Pia Vuola +5 more
wiley +1 more source
Perinatal lethal skeletal dysplasia: a case report [PDF]
, 2016 The word dysplasia originates from ancient Greek words dys (anomalous) and plasia (formation). Skeltal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of the bone and cartilage tissue ...
Dubey, Sunita +2 more
core +2 more sources
Genetic Determinants of Short Stature [PDF]
, 2016 Growth in height is a multifactorial process in which 80–90% of the contributing factors are genetic. The genes that determine the appropriate morphology and function of the skeletal and endocrinal system are the most being involved.
Miclea, Diana
core +2 more sources
Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria:
Nigerian Journal of PaediatricsThanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word thanatophorus meaning death bringing.
Daniyan OW +3 more
doaj
Principles Of Differentiation And Morphogenesis [PDF]
, 2016 Developmental biology is the science connecting genetics with anatomy, making sense out of both. The body builds itself from the instructions of the inherited DNA and the cytoplasmic system that interprets the DNA into genes and creates intracellular and
Gilbert, Scott F., Rice, R.
core +1 more source
Analysis of STAT1 Activation by Six FGFR3 Mutants Associated with Skeletal Dysplasia Undermines Dominant Role of STAT1 in FGFR3 Signaling in Cartilage [PDF]
, 2008 Activating mutations in FGFR3 tyrosine kinase cause several forms of human skeletal dysplasia. Although the mechanisms of FGFR3 action in cartilage are not completely understood, it is believed that the STAT1 transcription factor plays a central role in ...
Bryja, Vitezslav +8 more
core +3 more sources
Fgf receptor 3 activation promotes selective growth and expansion of occipitotemporal cortex
Neural Development, 2009 Background Fibroblast growth factors (Fgfs) are important regulators of cerebral cortex development. Fgf2, Fgf8 and Fgf17 promote growth and specification of rostromedial (frontoparietal) cortical areas.
Marques Catia S +8 more
doaj +1 more source
The role of sonographic phenotyping in delivering an efficient non-invasive prenatal diagnosis (NIPD) service for FGFR3-related skeletal dysplasias [PDF]
, 2020 Objectives: To evaluate the diagnostic yield of noninvasive prenatal diagnosis (NIPD) for FGFR3‐related skeletal dysplasias and assess the accuracy of referrals based on sonographic findings to inform guidelines for referral.
Chandler, N +3 more
core
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
C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.
PLoS ONE, 2018 Activating mutations of fibroblast growth factor receptors (FGFRs) are a major cause of skeletal dysplasias, and thus they are potential targets for pharmaceutical intervention. BMN 111, a C-type natriuretic peptide analog, inhibits FGFR signaling at the
Greg Holmes +7 more
doaj +1 more source