Matches in SemOpenAlex for { <https://semopenalex.org/work/W2282562895> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2282562895 endingPage "90" @default.
- W2282562895 startingPage "87" @default.
- W2282562895 abstract "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.Single-centre retrospective study over a period of 15 years with review of the literature.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.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." @default.
- W2282562895 created "2016-06-24" @default.
- W2282562895 creator A5013700710 @default.
- W2282562895 creator A5037136875 @default.
- W2282562895 creator A5037221533 @default.
- W2282562895 creator A5079983453 @default.
- W2282562895 creator A5082026060 @default.
- W2282562895 creator A5087195709 @default.
- W2282562895 date "2016-04-01" @default.
- W2282562895 modified "2023-09-23" @default.
- W2282562895 title "Pycnodysostosis presenting as atypical stridor" @default.
- W2282562895 cites W1973838563 @default.
- W2282562895 cites W1989048690 @default.
- W2282562895 cites W1995184039 @default.
- W2282562895 cites W2048663074 @default.
- W2282562895 cites W2091699747 @default.
- W2282562895 cites W2103115488 @default.
- W2282562895 cites W2108339031 @default.
- W2282562895 cites W2130525647 @default.
- W2282562895 cites W2164340794 @default.
- W2282562895 doi "https://doi.org/10.1016/j.anorl.2015.06.005" @default.
- W2282562895 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26856677" @default.
- W2282562895 hasPublicationYear "2016" @default.
- W2282562895 type Work @default.
- W2282562895 sameAs 2282562895 @default.
- W2282562895 citedByCount "3" @default.
- W2282562895 countsByYear W22825628952019 @default.
- W2282562895 countsByYear W22825628952022 @default.
- W2282562895 crossrefType "journal-article" @default.
- W2282562895 hasAuthorship W2282562895A5013700710 @default.
- W2282562895 hasAuthorship W2282562895A5037136875 @default.
- W2282562895 hasAuthorship W2282562895A5037221533 @default.
- W2282562895 hasAuthorship W2282562895A5079983453 @default.
- W2282562895 hasAuthorship W2282562895A5082026060 @default.
- W2282562895 hasAuthorship W2282562895A5087195709 @default.
- W2282562895 hasBestOaLocation W22825628951 @default.
- W2282562895 hasConcept C105922876 @default.
- W2282562895 hasConcept C141071460 @default.
- W2282562895 hasConcept C142724271 @default.
- W2282562895 hasConcept C187212893 @default.
- W2282562895 hasConcept C2776066342 @default.
- W2282562895 hasConcept C2776917539 @default.
- W2282562895 hasConcept C2778205975 @default.
- W2282562895 hasConcept C2778333281 @default.
- W2282562895 hasConcept C2778487983 @default.
- W2282562895 hasConcept C2778974821 @default.
- W2282562895 hasConcept C2779744641 @default.
- W2282562895 hasConcept C2781047483 @default.
- W2282562895 hasConcept C2781326671 @default.
- W2282562895 hasConcept C42219234 @default.
- W2282562895 hasConcept C71924100 @default.
- W2282562895 hasConceptScore W2282562895C105922876 @default.
- W2282562895 hasConceptScore W2282562895C141071460 @default.
- W2282562895 hasConceptScore W2282562895C142724271 @default.
- W2282562895 hasConceptScore W2282562895C187212893 @default.
- W2282562895 hasConceptScore W2282562895C2776066342 @default.
- W2282562895 hasConceptScore W2282562895C2776917539 @default.
- W2282562895 hasConceptScore W2282562895C2778205975 @default.
- W2282562895 hasConceptScore W2282562895C2778333281 @default.
- W2282562895 hasConceptScore W2282562895C2778487983 @default.
- W2282562895 hasConceptScore W2282562895C2778974821 @default.
- W2282562895 hasConceptScore W2282562895C2779744641 @default.
- W2282562895 hasConceptScore W2282562895C2781047483 @default.
- W2282562895 hasConceptScore W2282562895C2781326671 @default.
- W2282562895 hasConceptScore W2282562895C42219234 @default.
- W2282562895 hasConceptScore W2282562895C71924100 @default.
- W2282562895 hasIssue "2" @default.
- W2282562895 hasLocation W22825628951 @default.
- W2282562895 hasLocation W22825628952 @default.
- W2282562895 hasOpenAccess W2282562895 @default.
- W2282562895 hasPrimaryLocation W22825628951 @default.
- W2282562895 hasRelatedWork W1979004067 @default.
- W2282562895 hasRelatedWork W1999404092 @default.
- W2282562895 hasRelatedWork W2157659498 @default.
- W2282562895 hasRelatedWork W2282562895 @default.
- W2282562895 hasRelatedWork W2501167629 @default.
- W2282562895 hasRelatedWork W2799760813 @default.
- W2282562895 hasRelatedWork W3097843633 @default.
- W2282562895 hasRelatedWork W4245659415 @default.
- W2282562895 hasRelatedWork W4255706152 @default.
- W2282562895 hasRelatedWork W74987973 @default.
- W2282562895 hasVolume "133" @default.
- W2282562895 isParatext "false" @default.
- W2282562895 isRetracted "false" @default.
- W2282562895 magId "2282562895" @default.
- W2282562895 workType "article" @default.