The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography
| العنوان: | The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23(rd) week of a pregnancy: A very rare and unusual case far from the original geography |
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| المؤلفون: | İslim Volkan, Mehmet Karaca, Kahraman Ülker, İsmail Temur, Mustafa Ersöz, Abdülaziz Gül, Esat Adiguzel |
| المصدر: | The American Journal of Case Reports Scopus-Elsevier |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Transverse limb defect, hand malformation, hypertension, consanguineous marriage, heart arrhythmia, Case Report, pregnancy termination, acheiropodia, bradycardia, metronidazole, Acheiria, medicine, case report, human, forearm malformation, gestational age, limb malformation, hydrochlorothiazide plus spironolactone, hirsutism, misoprostol, Pregnancy, Acheiropodia, Unusual case, ornidazole, autosomal recessive disorder, congenital disorder, business.industry, French horn, genital tract infection, adult, fetus echography, article, General Medicine, medicine.disease, abortion, archeiropodia, newborn death, acheiria, clinical feature, fetus, female, Horn Kolb syndrome, transverse limb defect, business, oligohydramnios |
| الوصف: | Background: The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey. Case Report: 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. Conclusions: 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. © Am J Case Rep. |
| وصف الملف: | application/pdf |
| تدمد: | 1941-5923 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f869564762585c88f81d044cb498339dTest https://pubmed.ncbi.nlm.nih.gov/23569502Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f869564762585c88f81d044cb498339d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19415923 |
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