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Brief clinical report: lethal multiple pterygium syndrome in an 18-week fetus with hydrops

Isaacson G, Gargus JJ, Mahoney MJ

American journal of medical genetics, 1984

Abstract

We present the case of an 18-week abortus with lethal multiple pterygium syndrome and hydrops. Radiographic and anatomic study showed none of the bony abnormalities reported in live-born children with multiple pterygium syndrome. The pathogenesis of the hydrops was not apparent. The findings of cleft palate, pulmonary hypoplasia, muscular atrophy, gracile thoracic bones, and fetal death are typical of the lethal variant.

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