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http://hdl.handle.net/20.500.12188/17357
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kristina Skeparovska | en_US |
dc.contributor.author | Ana Kocevska | en_US |
dc.contributor.author | Anamarija Jankulovska | en_US |
dc.contributor.author | Metodija Trajchevski | en_US |
dc.contributor.author | Angela Trajkovska-Popov | en_US |
dc.date.accessioned | 2022-04-11T07:58:18Z | - |
dc.date.available | 2022-04-11T07:58:18Z | - |
dc.date.issued | 2021 | - |
dc.identifier.issn | 0025-1097 | - |
dc.identifier.uri | http://hdl.handle.net/20.500.12188/17357 | - |
dc.description.abstract | Introduction. Achondroplasia is the most common non-lethal skeletal dysplasia and the main cause for dwarfism in humans. Case presentation. A 27-year-old pregnant woman came into our hospital in the third trimester of pregnancy with a medical report of short fetal limbs (<5 percentile). Our US exam revealed rhizomelic shortening of the limbs, with frontal bossing, depressed nasal bridge and a trident hand. These findings were highlysuggestive for achondroplasia which was confirmed by DNA testing for FGFR3 mutation after a well-adapting male baby was born. Conclusion. Achondroplasia displays US features that raise a suspicion for the disease prenatally. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Македонско лекарско друштво = Macedonian medical association | en_US |
dc.relation.ispartof | Македонски Медицински Преглед = Macedonian Medical Review | en_US |
dc.subject | achondroplasia | en_US |
dc.subject | shortening of the limbs | en_US |
dc.subject | frontal bossing | en_US |
dc.subject | trident hand | en_US |
dc.subject | FGFR3 mutation | en_US |
dc.title | FETAL ACHONDROPLASIA-ULTRASONOGRAPHIC FEATURES (CASE REPORT) | en_US |
dc.title.alternative | ФЕТАЛНА АХОНДРОПЛАЗИЈА-УЛТРАЗВУЧНИ КАРАКТЕРИСТИКИ (ПРИКАЗ НА СЛУЧАЈ) | en_US |
dc.type | Article | en_US |
dc.identifier.volume | 75 | - |
dc.identifier.issue | 2 | - |
item.grantfulltext | open | - |
item.fulltext | With Fulltext | - |
crisitem.author.dept | Faculty of Medicine | - |
crisitem.author.dept | Faculty of Medicine | - |
crisitem.author.dept | Faculty of Medicine | - |
Appears in Collections: | Faculty of Medicine: Journal Articles |
Files in This Item:
File | Опис | Size | Format | |
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FETAL ACHONDROPLASIA -ULTRASONOGRAPHIC FEATURES (CASE REPORT).pdf | 3.13 MB | Adobe PDF | View/Open |
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