Üstün, YusufÜstün, Engin YaprakZeteroğlu, ŞahinKamacı, MansurŞahin, Hanım GülerŞengül, Muzaffer2025-05-102025-05-1020051300-47512602-4918https://search.trdizin.gov.tr/en/yayin/detay/50749/thanatophoric-dysplasia-a-case-report-of-recurrencehttps://hdl.handle.net/20.500.14720/13101Thanatophoric 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 pregnancyeninfo:eu-repo/semantics/openAccessKadın Hastalıkları Ve DoğumPediatriArticle111N/AN/A626350749