Diagnosis of atelosteogenesis type i suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism
Revista Brasileira de Ginecologia e Obstetricia, ISSN: 0100-7203, Vol: 40, Issue: 9, Page: 570-575
2018
- 3Citations
- 637Usage
- 8Captures
Metric Options: Counts1 Year3 YearSelecting the 1-year or 3-year option will change the metrics count to percentiles, illustrating how an article or review compares to other articles or reviews within the selected time period in the same journal. Selecting the 1-year option compares the metrics against other articles/reviews that were also published in the same calendar year. Selecting the 3-year option compares the metrics against other articles/reviews that were also published in the same calendar year plus the two years prior.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Metrics Details
- Citations3
- Citation Indexes3
- CrossRef3
- Usage637
- Full Text Views564
- 564
- Abstract Views73
- 73
- Captures8
- Readers8
Article Description
Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting ∼ 20% of the evaluated cells and, therefore, confirming the diagnosis of mosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85053676139&origin=inward; http://dx.doi.org/10.1055/s-0038-1670684; http://www.ncbi.nlm.nih.gov/pubmed/30231296; https://journalrbgo.org/article/diagnosis-of-atelosteogenesis-type-i-suggested-by-fetal-ultrasonography-and-atypical-paternal-phenotype-with-mosaicism/; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570&lng=en&tlng=en; http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0100-72032018000900570&lng=en&tlng=en; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570; http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0100-72032018000900570; https://dx.doi.org/10.1055/s-0038-1670684; https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0038-1670684
Federação das Associações de Ginecologia e Obstetrícia
Provide Feedback
Have ideas for a new metric? Would you like to see something else here?Let us know