A case of Larsen syndrome.

Kim, Jin Sub; Kim, Seung Hyun; Kim, Jeung Hyun; Jin, Chan Hee; Kim, Hyun Young; Song, Young Rae; Oh, Kwan Young

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Obstet Gynecol Sci > Volume 51(11); 2008 > Article

Case Report

Korean Journal of Obstetrics & Gynecology 2008;51(11):1337-1341.
Published online November 1, 2008.

A case of Larsen syndrome.

Jin Sub Kim, Seung Hyun Kim, Jeung Hyun Kim, Chan Hee Jin, Hyun Young Kim, Young Rae Song, Kwan Young Oh

Department of Obstetrics & Gynecology, Eulji University Hospital, Daejeon, Korea. ohky5@eulji.ac.kr

Abstract

Larsen syndrome is a rare congenital skeletal malformation (1 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 nontapering fingers and craniofacial abnormalities. Clinical variations range from mild clinical expression to lethal forms. Sporadic occurrence as well as autosomal dorminant and recessive inheritance are described.

Key Words: Larsen syndrome

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