| Autor: |
Akin Usta, Dilay Karademir, Eylem Sen, Selcuk Yazici, Ertan Adali, Erkan Erdem, Meric Karacan |
| Jazyk: |
English<br />French |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
The Pan African Medical Journal, Vol 27, Iss 198 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
1937-8688 |
| DOI: |
10.11604/pamj.2017.27.198.12295 |
| Popis: |
Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine (p.Gly187Val) at codon 187. The pregnancy follow-up was uneventful. After delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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