Prenatal diagnosis of Jeune syndrome

Prenatal diagnosis of Jeune syndrome

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...

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Veröffentlicht in:American journal of medical genetics 1985-07, Vol.21 (3), p.433-438
Hauptverfasser: Elejalde, B. Rafael, De Elejalde, Maria Mercedes, Pansch, Donald, Opitz, John M., Reynolds, James F.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Asphyxia Neonatorum - complications
autosomal recessive inheritance
Biological and medical sciences
Female
Genes, Recessive
Gynecology. Andrology. Obstetrics
Humans
Infant, Newborn
Jeune syndrome
Male
Management. Prenatal diagnosis
Medical sciences
Osteochondrodysplasias - diagnosis
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Thanatophoric Dysplasia - diagnosis
Thanatophoric Dysplasia - genetics
Thorax - abnormalities
Ultrasonography
ultrasound
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Beschreibung
Zusammenfassung: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320210304