Results 61 to 70 of about 18,979 (223)
Pharmacological exposures may precipitate craniosynostosis through targeted stem cell depletion
Stem Cell Research, 2019 The Centers for Disease Control and Prevention, National Birth Defects Study suggests that environmental exposures including maternal thyroid diseases, maternal nicotine use, and use of selective serotonin reuptake inhibitors (SSRIs) may exacerbate ...
Emily Durham +4 more
doaj +1 more source
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
Case Reports in Genetics, 2022 Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development.
Jonas Gustafson +3 more
doaj +1 more source
RGO: Revista Gaúcha de Odontologia, 2022 Shprintzen-Goldberg craniosynostosis syndrome, characterized by craniosynostosis and marfanoid habitus, is a very rare entity described in 75 individuals worldwide.
Danielle Monsores VIEIRA +5 more
doaj +1 more source
Epidemiology of craniosynostosis in Norway.
Journal of Neurosurgery: Pediatrics, 2020 OBJECTIVE The authors present population-based epidemiological data for craniosynostosis regarding incidence, age at diagnosis, sex differences, and frequency of syndromic and familial cases.
Elin Tønne +6 more
semanticscholar +1 more source
Identifying the Misshapen Head: Craniosynostosis and Related Disorders
Pediatrics, 2020 Pediatric care providers, pediatricians, pediatric subspecialty physicians, and other health care providers should be able to recognize children with abnormal head shapes that occur as a result of both synostotic and deformational processes.
M. Dias +4 more
semanticscholar +1 more source
PLoS ONE, 2020 Craniosynostosis is the premature fusion of cranial bones. The goal of this study was to determine if delivery of recombinant tissue nonspecific alkaline phosphatase (TNAP) could prevent or diminish the severity of craniosynostosis in a C57BL/6 ...
Hwa Kyung Nam +3 more
doaj +1 more source
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Genetics in Medicine, 2020 Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism near BMP2 (rs1884302) was proposed to contribute to ...
E. Calpena +24 more
semanticscholar +1 more source
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
Anthropometry of craniosynostosis
Neurologia i Neurochirurgia Polska, 2015 Anthropometry is becoming a popular method for diagnostics of various diseases in pediatric clinical practice. The aim of this study was to assess the growth changes in craniofacial parameters in patients with craniosynostosis and positional plagiocephaly.Inclusion criteria for the study were presence of craniostenosis or positional plagiocephaly in a ...
Eva Štefánková +5 more
openaire +3 more sources
British Journal of Clinical Pharmacology, EarlyView.Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin +7 more
wiley +1 more source