Open AccessRespiratory sleep disorders in Jeune sindrome: a case description
Author(s) -
Patrizia Congiu,
Monica Puligheddu,
Gioia Gioi,
Monica Marica,
C Pani,
Silvia Piga,
Francesco Marrosu,
Loredana Boccone
Publication year - 2015
Publication title -
archives italiennes de biologie
Language(s) - English
Resource type - Journals
ISSN - 0003-9829
DOI - 10.12871/000398292015240
Subject(s) - medicine , respiratory distress , pediatrics , polysomnography , surgery , anesthesia , apnea
Jeune syndrome (JS, also described as asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Significant life-threatening cervical spine abnormalities can be typical.