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Dergiler / 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
Sayfa
62–63
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

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

📌 3 Maddede Bu Makale

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Amaç & Hipotez: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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Temel Bulgular & Veri:It occurs with an estimated frequency of about 0.3-0.5 in 10000 births.
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Sonuç & Katkı:In cases of consanguinous marriages with a history of malformed fetus like our case, genetic counselling should be arranged for their further pregnancy
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler: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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Bu Makaleye Atıf Yap

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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Kaynakça (7)

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