Early prenatal sonographic diagnosis and follow-up of Jeune syndrome.

ULTRASOUND IN OBSTETRICS & GYNECOLOGY(2001)

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摘要
Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum of manifestations, ranging from a latent to a mild or lethal condition. We describe the prenatal sonographic diagnosis of Jeune syndrome at 14 weeks of gestation in a fetus at risk for this condition, and the development of the syndrome throughout the pregnancy.
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asphyxiating thoracic dysplasia,early pregnancy,fetus,Jeune syndrome,prenatal diagnosis,ultrasound
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