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Prenatal diagnosis of Jeune syndrome

✍ Scribed by Elejalde, B. Rafael ;De Elejalde, Maria Mercedes ;Pansch, Donald ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 404 KB
Volume: 21
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320210304

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✦ Synopsis

We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal diagnosis of the condition.

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