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13 June 2012

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

Ismail Temur, Kahraman Ulker, Islim Volkan, Mehmet Karaca, Mustafa Ersoz, Abdulaziz Gul, Esat Adiguzel

DOI: 10.12659/AJCR.883025

Am J Case Rep 2012; 13:106-108

Abstract

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.

Keywords: transvers limb defect, Horn Kolb syndrome, Acheiropodia, acheiria, Limb Deformities, Congenital

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923