title: Respiratory sleep disorders in Jeune syndrome: a case description.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Here we describe the case of a male infant of Sardinian origin, who developed respiratory distress and feeding difficulties from the first months, correlated with muscle\skeletal dysmorphism prevalent on chest. Nocturnal respiratory sleep alterations were reported from parents.
  
  
  RESULTS
  After clinical, genetics, radiographic and cervical MRI investigations, ATD diagnosis with C1 stenosis. A full-night video-polysomnographic study was performed in order to evaluate the sleep apnea condition. The study showed a condition of tachipnea\tachicardia, with several short respiratory events during sleep, both obstructive and central type with apneahypopnea index (AHI) 17/ h, mean duration 3.7 sec with longest 20 sec.
  
  
  CONCLUSIONS
  It can be hypothesized that the combination of altered respiratory and cardiac frequency is related to central type of sleep respiratory disorders consequent to C1 compression, while the obstructive minor component is related to thoracic restrictive disorders. Full night lab-polygraphy is recommended in dysmorphic skeletal disorders like JS.
authors.affiliation: Sleep Disorders Center, Departement of Public Health and Clinical and Molecular Medicine, University of Cagliari, Italy. Email: patcongiu@gmail.com.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Congiu
authors.forename: Monica
authors.initials: M
authors.lastname: Puligheddu
authors.forename: Gioia
authors.initials: G
authors.lastname: Gioi
authors.forename: Monica
authors.initials: M
authors.lastname: Marica
authors.forename: Claudia
authors.initials: C
authors.lastname: Pani
authors.forename: Silvia
authors.initials: S
authors.lastname: Piga
authors.forename: Francesco
authors.initials: F
authors.lastname: Marrosu
authors.forename: Loredana
authors.initials: L
authors.lastname: Boccone
mesh_terms: D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017286:Polysomnography; D012891:Sleep Apnea Syndromes / Q000175:diagnosis*