title: Pycnodysostosis presenting as atypical stridor.
abstract: OBJECTIVE
  Pycnodysostosis is a rare genetic disorder caused by a mutation of the cathepsin K gene involved in bone turnover. It is responsible, in particular, for a combination of dwarfism and bone fragility. Upper airway obstruction may be observed, but associated stridor has never been previously described.
  
  
  METHODS
  Single-centre retrospective study over a period of 15 years with review of the literature.
  
  
  RESULTS
  Three children (aged 2-18 months) were managed for stridor and obstructive sleep apnoea syndrome confirmed by polysomnography. Physical examination of these children revealed stridor with laryngomalacia, characteristic dysmorphic features and failure to thrive. Patient 1 presented typical laryngomalacia treated by surgical section of the aryepiglottic folds. Patient 2 presented upper airway obstruction with a narrow nasopharynx and long soft palate, treated by surgery and noninvasive ventilation. Patient 3 presented moderate laryngomalacia and nasal obstruction, treated by surgery and noninvasive ventilation.
  
  
  CONCLUSIONS
  The diagnosis of pycnodysostosis must be considered in the presence of atypical laryngomalacia associated with multifactorial upper airway obstruction, failure to thrive and dysmorphic syndrome. A genetics consultation is essential in these patients.
authors: Service d'ORL et chirurgie cervico-faciale, CHU de Bicêtre, 78, rue du Général-Leclerc, 94276 Le Kremlin Bicêtre, France. Electronic address: laurent.manfredi@hotmail.fr.
authors: L
authors: L
authors: Manfredi
authors: Service de génétique, hôpital universitaire Necker-Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France.
authors: S
authors: S
authors: Marlin
authors: Service de pneumopédiatrie, hôpital universitaire Necker-Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France.
authors: B
authors: B
authors: Fauroux
authors: Service d'ORL et chirurgie cervico-faciale, hôpital universitaire Necker-Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France.
authors: N
authors: N
authors: Garabedian
authors: Service d'ORL et chirurgie cervico-faciale, hôpital universitaire Necker-Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France.
authors: V
authors: V
authors: Couloigner
authors: Service d'ORL et chirurgie cervico-faciale, hôpital universitaire Necker-Enfants-Malades, 149, rue de Sèvres, 75015 Paris, France.
authors: N
authors: N
authors: Leboulanger
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D058631:Pycnodysostosis / Q000150:complications / Q000175:diagnosis*; D012135:Respiratory Sounds / Q000209:etiology; D012189:Retrospective Studies
keywords: Laryngomalacia; Noninvasive ventilation; OSAS; Pycnodysostosis; Snoring