Case Report |
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Jeune Syndrome (Asphyxiating Thoracic Dystrophy)
Ozgu Suna Celiloglu*, Metin Dogan**, Muharrem Ak***, Derya Gumus Dogan*, Can Celiloglu*, Ahmet Sigirci**, Ahmet Karadag* . Abstract | | | |
Jeune syndrome, otherwise called as “asphyxiating thoracic dystrophy” (ATD) is a rare autosomal recessive inherited chondrodysplasia characterized by severely constricted thoracic cage, limb anomalies, respiratory insufficiency and considerable neonatal mortality. Most of the children suffering from this syndrome present severe respiratory insufficiency and need serious ventilatory support during the early infancy period. The syndrome has a wide clinical spectrum including renal dysplasia, retinitis pigmentosa, hepatic and pancreatic fibrosis. Herein we present a neonate who had a prenatal diagnosis of achondroplasia, showed serious respiratory insufficiency postnatally and was diagnosed as Jeune syndrome.
Key Words: Jeune Syndrome; Asphyxiating Thoracic Dystrophy; Newborn.
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