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.
Cesarean Section ; Child ; Diagnosis ; Dwarfism ; Extremities ; Female ; Humans ; Hypertension ; Liver Failure ; Pelvic Bones ; Pregnancy ; Recurrence ; Renal Insufficiency ; Thorax ; Uremia