The first case of Horn Kolb Syndrome in Turkey diagnosed prenatally at the 23rd week of a pregnancy A very rare and unusual case far from the original geography
Yazarlar (7)
Ismail Temur
Kahraman Ülker
Islim Volkan
Mehmet Karaca
Mustafa Ersoz
Abdulaziz Gul
Esat Adiguzel
| Makale Türü |
Özgün Makale
(SCOPUS dergilerinde yayınlanan tam makale)
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| Dergi Adı | AMERICAN JOURNAL OF CASE REPORTS | ||
| Dergi ISSN | 1941-5923 Dergi Bilgileri (2012) | ||
| Dergi Tarandığı Indeksler | Index Medicus | ||
| Makale Dili | İngilizce | Basım Tarihi | 01-2012 |
| Kabul Tarihi | – | Yayınlanma Tarihi | 01-01-2012 |
| Cilt / Sayı / Sayfa | 13 / 0 / 106–108 | DOI | 10.12659/AJCR.883025 |
| Makale Linki | https://amjcaserep.com/download/index/idArt/883025 | ||
| UAK Araştırma Alanları |
Kadın Hastalıkları ve Doğum
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| 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 |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları |