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다발성 익상편 증후군 1예의 산전 초음파 소견

Prenatal ultrasonographic findings of a case of multiple pterygium syndrome

대한산부인과학회지 2005년 48권 3호 p.760 ~ 765
최숙근/Choi SK
이신화/정의/오지영/김선권/심재윤/원혜성/이필량/김암/Lee SH/Jung E/Oh JY/Kim SK/Shim JY/Won HS/Lee PR/Kim A

Abstract


Multiple pterygium syndrome is an inherited condition characterized by joint pterygium and flexion contracture, in association with other abnormalities such as fetal hydrops, cystic hygroma, club foot, intrauterine growth retardation and hypoplastic lungs. It is usually inherited as an autosomal recessive trait, although X-linked recessive inheritance is also reported. The pathogenesis has been suggested to be early onset fetal akinesia, fragile collagen or generalized edema. Prenatal diagnosis of multiple pterygium syndrome is possible by demonstrating severe limb contractures, absence of fetal limb motion and progressive fetal edema in mid-pregnancy, but in case with a family history of this syndrome, ultrasound studies should be started in the first trimester. We have experienced a multiple pterygium syndrome with a history of recurrent fetal hydrops, so report on the prenatal sonographic findings of this case with brief review of literatures.

키워드

다발성 익상편 증후군;반복적인 태아 수종;산전 초음파 소견;Multiple pterygium syndrome;Recurrent fetal hydrops;Prenatal sonographic findings
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