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Asphyxiating Thoracic Dystrophy (Jeune syndrome)

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Author(s): Pareshkumar A. Thakkar | Sheila Aiyer | Binoy Shah

Journal: Journal of Case Reports
ISSN 2231-6809

Volume: 2;
Issue: 1;
Start page: 15;
Date: 2012;
Original page

Keywords: Asphyxiating thoracic dystrophy | Jeune syndrome

ABSTRACT
Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow thorax and short limb dwarfism with a considerable neonatal mortality. We report a case of Jeune syndrome admitted at our neonatal ICU. The child had narrow thorax with short limbs. Skeletal survey showed typical findings of horizontal short ribs with irregular and enlarged costochondral junction, small and horizontal clavicles.
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