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Respiratory sleep disorders in Jeune syndrome: a case description.
Archives Italiennes De Biologie ( IF 1 ) Pub Date : 2016-1-9 , DOI: 10.12871/000398292015240
Patrizia Congiu 1 , Monica Puligheddu , Gioia Gioi , Monica Marica , Claudia Pani , Silvia Piga , Francesco Marrosu , Loredana Boccone
Affiliation  

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.

中文翻译:

Jeune综合征的呼吸性睡眠障碍:病例描述。

Jeune综合征(JS,也被称为窒息性胸腔营养不良,ATD)是一种罕见的常染色体隐性骨骼发育异常,其特征是小而狭窄的胸腔和肢体短小不等,由于呼吸窘迫而导致相当高的新生儿死亡率。严重威胁生命的颈椎异常可能是典型的。
更新日期:2020-08-21
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