| Yazarlar |
Dr. Öğr. Üyesi Serbülent KILIÇ
Kastamonu Üniversitesi, Türkiye |
Arzu Oto
Türkiye |
|
Orhan Görükmez
Türkiye |
|
Ayşenur Metin
|
| Özet |
| In some cases, making of physical abuse diagnosis can be difficult if the findings were derived from an unusual disease or an unexpected finding of a common disease. A female infant was admitted to emergency department of our hospital, who was suffering from loss of consciousness. Examination and imaging methods revealed subarachnoid hemorrhage, old and new femur fractures, bilateral retinal hemorrhage. Performing genetic tests with multidisciplinary approach concluded that our case was found to have a mutation, DOCK8 (NM_001190458; c.2071G>A; p.Val691Met), suggests to Job syndrome (JS). JS is not only an immunodeficiency syndrome but also can be manifested by skeletal and connective tissue disorders. The fractures were most likely due to JS. Physicians must be aware of these probabilities. On the other hand, though it was only reported in a heterozygous form in GenomAD (genome aggregation database) it has big value that it was homozygous in our case. |
| Anahtar Kelimeler |
| Child abuse | Job syndrome | physical abuse |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | ESCI dergilerinde yayımlanan tam makale |
| Dergi Adı | Turkish Journal of Pediatric Emergency and Intensive Care Medicine |
| Dergi ISSN | 2146-2399 |
| Dergi Tarandığı Indeksler | ESCI |
| Makale Dili | İngilizce |
| Basım Tarihi | 07-2024 |
| Cilt No | 11 |
| Sayı | 2 |
| Sayfalar | 133 / 136 |
| Doi Numarası | 10.4274/cayd.galenos.2024.73626 |
| Makale Linki | http://dx.doi.org/10.4274/cayd.galenos.2024.73626 |
| Atıf Sayıları |
