Thanatophoric Dysplasia: A Case Report of Recurrence

Yaprak ENGİN ÜSTÜN, Yusuf ÜSTÜN, Güler ŞAHİN, Şahin ZETEROĞLU, Mansur KAMACI, Muzaffer ŞENGÜL
Van-Turkey

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
(Gynecol Obstet Reprod Med 2005; 11:62-63)

Key Words: Thanatophoric dysplasia, Recurrence