YAPRAK ENGİN ÜSTÜN, YUSUF ÜSTÜN, GÜLER ŞAHİN, ŞAHİN ZETEROĞLU, MANSUR KAMACI, MUZAFFER ŞENGÜL
Gynecology Obstetrics & Reproductive Medicine - 2005;11(1):62-63
Thanatophoric dysplasia is a sporadic lethal neonatal dwarfism characterized by shortening of the limbs, macrocephaly, pear-shaped thorax and short ribs. It occurs with an estimated frequency of about 0.3-0.5 in 10000 births. The majority of cases are sporadic but rare reports of recurrence exist. We reported a case who had consecutive pregnancies with thanatophoric dysplasia diagnosed on antenatal ultrasound. In cases of consanguinous marriages with a history of malformed fetus like our case, genetic counselling should be arranged for their further pregnancy
