| Yazarlar |
Temur İsmail
|
|
Ülker Kahraman
|
|
Volkan İslim
|
|
Karaca Mehmet
|
|
Ersöz Mustafa
|
|
Gül Abdülaziz
|
|
Adıgüzel Esat
|
| Özet |
| The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features. Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening. |
| Anahtar Kelimeler |
| acheiropodia | acheiria | transverse limb defect | Horn Kolb syndrome |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | Diğer hakemli uluslarası dergilerde yayımlanan tam makale |
| Dergi Adı | AMERICAN JOURNAL OF CASE REPORTS |
| Dergi ISSN | 1941-5923 |
| Dergi Tarandığı Indeksler | Index Medicus |
| Makale Dili | İngilizce |
| Basım Tarihi | 1-2012 |
| Cilt No | 13 |
| Sayfalar | 106 / 108 |
| Doi Numarası | 10.12659/AJCR.883025 |
| Makale Linki | http://www.amjcaserep.com/ |
| Atıf Sayıları | |
| WoS | 1 |
