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Prenatal Sonographic Diagnosis of Jeune Syndrome


Schinzel, Albert; Savoldelli, G; Briner, J; Schubiger, G (1985). Prenatal Sonographic Diagnosis of Jeune Syndrome. Radiology, 154(3):777-778.

Abstract

Asphyxiating thoracic dysplasia (Jeune syndrome) is characterized by a narrow thoracic cage, which causes severe respiratory failure with frequent perinatal death; brachymelia, predominantly of the rhizomelic type; renal anomalies; and characteristic radiographic findings of ribs, pelvis, and long tubular bones. Inheritance is autosomal recessive. Prenatal sonographic examination was performed at 17 and 19 weeks of a fetus of parents whose first child had died of Jeune syndrome. The length of the humeri, femora, and tibiae was short (below the mean) for gestational age, and the thorax was abnormally flat and narrow. The iliac wings were square-shaped. We concluded that the fetus had Jeune syndrome. The characteristic skeletal changes of Jeune syndrome are distinct enough at 17 weeks of fetal age to permit sonographic diagnosis.

Abstract

Asphyxiating thoracic dysplasia (Jeune syndrome) is characterized by a narrow thoracic cage, which causes severe respiratory failure with frequent perinatal death; brachymelia, predominantly of the rhizomelic type; renal anomalies; and characteristic radiographic findings of ribs, pelvis, and long tubular bones. Inheritance is autosomal recessive. Prenatal sonographic examination was performed at 17 and 19 weeks of a fetus of parents whose first child had died of Jeune syndrome. The length of the humeri, femora, and tibiae was short (below the mean) for gestational age, and the thorax was abnormally flat and narrow. The iliac wings were square-shaped. We concluded that the fetus had Jeune syndrome. The characteristic skeletal changes of Jeune syndrome are distinct enough at 17 weeks of fetal age to permit sonographic diagnosis.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Radiology, Nuclear Medicine and Imaging
Uncontrolled Keywords:Radiology, Nuclear Medicine and imaging, Genetics (clinical), Fetus abnormalities, Ultrasound Studies
Language:English
Date:1 March 1985
Deposited On:04 Apr 2024 09:31
Last Modified:05 Apr 2024 20:00
Publisher:Radiological Society of North America
ISSN:0033-8419
OA Status:Green
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1148/radiology.154.3.3881799
PubMed ID:3881799
Other Identification Number:Corpus ID: 39814684
  • Content: Published Version
  • Language: English