A Case of Asphyxiating Thoracic Dysplasia / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 2344-2349, 1997.
Article
in Korean
| WPRIM
| ID: wpr-97635
ABSTRACT
Asphyxiating thoracic dysplasia(ATD;Jeunes's syndrome) is a rare variety of short limb dwarfism. It is characterized by an extremely small thorax when compared to the ab-dominal circumference, which frequently results in respiratory distress. Other anomalies as-sociated with Jeune's syndrome are pelvic bone malformations and renal dysplasia. It was first described and namely by Jeune et al. in 1954. Jeune's syndrome is an autosomal rece-ssive trait and has a 25% recurrence risk. These patients died at early age due to respirat-ory insufficiency. Death due to uremia has occurred in number of children surviving infan-cy, following progressive renal failure, hypertension and hepatic failure. About 50 cases have been reported in the world literature. We experienced a case of small thorax with short limb dwarfism on antenatal ultraso- und examination and then the baby was delivered by cesarean section. The diagnosis was confirmed to Asphyxiating thoracic dysplasia by clinical features, radiological findings and pathological findings. We reported a case of Asphyxiating thoracic dysplasia with review of literatures.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pelvic Bones
/
Recurrence
/
Thorax
/
Uremia
/
Cesarean Section
/
Liver Failure
/
Diagnosis
/
Dwarfism
/
Renal Insufficiency
/
Extremities
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
/
Pregnancy
Language:
Korean
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
1997
Type:
Article
Similar
MEDLINE
...
LILACS
LIS