A Case of Asphyxiating Thoracic Dysplasia.
- Author:
Dong Won JUNG
;
Myeong Cheol KIM
;
Kyong Moo YANG
;
Mee Yon CHO
;
Dong Jin KIM
;
In Sung HWANG
- Publication Type:Case Report
- MeSH:
Cesarean Section;
Child;
Diagnosis;
Dwarfism;
Extremities;
Female;
Humans;
Hypertension;
Liver Failure;
Pelvic Bones;
Pregnancy;
Recurrence;
Renal Insufficiency;
Thorax;
Uremia
- From:Korean Journal of Obstetrics and Gynecology
1997;40(10):2344-2349
- CountryRepublic of Korea
- Language:Korean
-
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.
