Thalidomid (Contergan) okozta végtaghiányos rendellenesség Magyarországon? [Thalidomide (Contergan) induced limb deficiency in Hungary?]

Abstract

CASE REPORT: A 47 year old female with severe deficiency of three limbs visited our Genetic Counselling Clinic and asked us to give her a certificate that her complex limb deficiency was caused by thalidomide (Contergan). According to her explanation, her mother used this drug during pregnancy which was given to her by her sister, who lived in West Germany. The characteristic signs of thalidomide embryopathy are: radial type limb deficiency including most severe forms of phocomelia and amelia, ear abnormalities. In the case of this woman, however, FFU (femoral-fibula-ulna) complex was found: bilateral femur hypoplasia (F), and fibular hypoplasia (F) with the lack of Vth and IVth toes, in addition with ulnar hypoplasia (U) with the deficiency of Vth and IVth fingers in her right upper limb. The left upper limb was not affected. Besides that, she was treated with schizophrenia. In conclusion, there is no association between the supposed thalidomide use during pregnancy and FFU complex.