IMR Press / CEOG / Volume 45 / Issue 6 / DOI: 10.12891/ceog4054.2018

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Case Report
Larsen syndrome: prenatal diagnosis – a report of three cases
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1 Department of Obstetrics and Gynaecology, Eulji University Hospital, Daejeon, Republic of Korea
2 Department of Paediatrics, Eulji University Hospital, Daejeon, Republic of Korea
Clin. Exp. Obstet. Gynecol. 2018, 45(6), 916–919; https://doi.org/10.12891/ceog4054.2018
Published: 10 December 2018
Abstract

Larsen syndrome is a rare congenital skeletal malformation (one in 100,000 births) caused by a generalized mesenchymal connective tissue disorder. This disorder leads to a broad spectrum of anomalies. Major diagnostic criteria are multiple dislocations of large joints (especially knees), short metacarpals with cylindrical non-tapering fingers, and anomalous facial features. Clinical spectrum is variable and it ranges from mild to lethal forms. Genetic aspect is also variable; sporadic occurrence as well as autosomal dominant and recessive inheritance have been described. In this study, the authors report on their experience\ by presenting three cases of Larsen syndrome diagnosed by prenatal ultrasound.
Keywords
Larsen syndrome
Multiple dislocations
Anomalous facial features
Prenatal ultrasound
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