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Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2005 / Cilt: 11 - Sayı: 1

Thanatophoric dysplasia: A case report of recurrence

Engin Yaprak ÜSTÜN
Yusuf ÜSTÜN
HANIM GÜLER ŞAHİN
Şahin ZETEROĞLU
Mansur KAMACI
Muzaffer ŞENGÜL
Pages
62–63
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In cases of consanguinous marriages with a history of malformed fetus like our case, genetic counselling should be arranged for their further pregnancy

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Thanatophoric dysplasia is a sporadic lethal neonatal dwarfism characterized by shortening of the limbs, macrocephaly, pear-shaped thorax and short ribs.
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Key Findings & Data:It occurs with an estimated frequency of about 0.3-0.5 in 10000 births.
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Conclusion & Impact:In cases of consanguinous marriages with a history of malformed fetus like our case, genetic counselling should be arranged for their further pregnancy
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Tekrarlama · Tanatoforik displazi · Recurrence

Abstract

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

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Cite This Article

ÜSTÜN, E. Y., ÜSTÜN, Y., ŞAHİN, H. G., ZETEROĞLU, Ş., KAMACI, M., ŞENGÜL, M. (2005). Thanatophoric dysplasia: A case report of recurrence. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 11 - Sayı: 1, 62–63. https://ajindex.com/articles/227563

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