Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature

The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal head appearance. A few clinical reports revealed prenatal sonographic findings in the literature. A 29-year-old, Turkish, gravid 3, pa...

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Bibliographic Details
Published in:The journal of maternal-fetal & neonatal medicine 2019-06, Vol.32 (11), p.1905-1908
Main Authors: Akkurt, Mehmet Ozgur, Pakay, Kaan, Akkurt, Iltac, Temur, Muzaffer, Korkmazer, Engin
Format: Article
Language:English
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Summary:The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal head appearance. A few clinical reports revealed prenatal sonographic findings in the literature. A 29-year-old, Turkish, gravid 3, para 2, woman was referred to our center for further evaluation of a suspicion of microcephaly at 21 weeks' gestation. The couple was third degree consanguineous. Detailed 2- and 3-dimensional sonography scan revealed a bird-headed appearance, prominent eyes with hypotelorism, a severe microcephaly (bi-parietal diameter and head circumference were both
ISSN:1476-7058
1476-4954
DOI:10.1080/14767058.2017.1419467