Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome)

Jeune syndrome, or asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal disorder characterized by a small thorax, short limbs, pelvic abnormalities (hypoplastic iliac wing), and renal anomalies. Occasional abnormalities include polydactyly, pancreatic fibrosis, situs inversus, and...

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Bibliographic Details
Published in:Journal of ultrasound in medicine 1999-08, Vol.18 (8), p.573-576
Main Authors: Tongsong, T, Chanprapaph, P, Thongpadungroj, T
Format: Article
Language:English
Subjects:
Adult
Asphyxia Neonatorum - diagnostic imaging
Biological and medical sciences
Diagnosis
Diseases
Female
Fetal Death
Fetal monitoring
General aspects
Gestational Age
Humans
Infant, Newborn
Male
Medical imaging
Medical sciences
Osteochondrodysplasias - diagnostic imaging
Pregnancy
Radiography, Thoracic
Syndrome
Thorax - abnormalities
Thorax - diagnostic imaging
Ultrasonography, Prenatal
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Description
Summary:Jeune syndrome, or asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal disorder characterized by a small thorax, short limbs, pelvic abnormalities (hypoplastic iliac wing), and renal anomalies. Occasional abnormalities include polydactyly, pancreatic fibrosis, situs inversus, and deformed teeth. Renal abnormalities and renal failure are a significant feature and a hazard in later life. Most affected infants die within the first year of life from respiratory failure and infections; only a few affected children survive through early adulthood. Severe renal involvement may occur and lead to chronic renal insufficiency in patients who survive respiratory failure. The disease was first described by Jeune and others in 1955; over 100 cases have now been reported. The frequency of Jeune syndrome is estimated to be between 1 in 100,000 and 1 in 130,000 live births. Only a few cases were prenatally documented. We report the prenatal diagnosis of Jeune syndrome at 26 weeks of gestation.
ISSN:0278-4297
1550-9613
DOI:10.7863/jum.1999.18.8.573