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김진섭 ( Jin Sub Kim ),김승현 ( Seung Hyun Kim ),김정현 ( Jeung Hyun Kim ),진찬희 ( Chan Hee Jin ),김현영 ( Hyun Young Kim ),송영래 ( Young Rae Song ),오관영 ( Kwan Young Oh ) 대한산부인과학회 2008 Obstetrics & Gynecology Science Vol.51 No.11
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.