Functional Upper Airway Obstruction in a Child with Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus and generalized muscular hypertension. Respiratory and swallowing problems are frequently encountered in these patients d...
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| Veröffentlicht in: | O.R.L. Journal for oto-rhino-laryngology and its related specialties 2002-01, Vol.64 (1), p.53-56 |
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| container_title | O.R.L. Journal for oto-rhino-laryngology and its related specialties |
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| creator | Schefels, Joerg Wenzl, Tobias G. Merz, Ulrich Ramaekers, Vincent Holzki, Josef Rudnik-Schoeneborn, Sabine Hermanns, Benita Hörnchen, Helmut |
| description | Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus and generalized muscular hypertension. Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose. Obstruction of the upper airway tract resulting in tracheostomy has only been described twice. The described child manifested the typical dysmorphic features of Freeman-Sheldon syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. The boy died at the age of 7 months after accidental decannulation of the tracheostoma during sleep. He did not show anatomical or histopathological abnormalities in the pharyngeal, laryngeal or tracheal regions. We assume that the only explanation of the repeated obstructive episodes is a functional muscular obstruction. |
| doi_str_mv | 10.1159/000049271 |
| format | Article |
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Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose. Obstruction of the upper airway tract resulting in tracheostomy has only been described twice. The described child manifested the typical dysmorphic features of Freeman-Sheldon syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. The boy died at the age of 7 months after accidental decannulation of the tracheostoma during sleep. He did not show anatomical or histopathological abnormalities in the pharyngeal, laryngeal or tracheal regions. We assume that the only explanation of the repeated obstructive episodes is a functional muscular obstruction.</description><identifier>ISSN: 0301-1569</identifier><identifier>ISSN: 1423-0275</identifier><identifier>EISSN: 1423-0275</identifier><identifier>DOI: 10.1159/000049271</identifier><identifier>PMID: 11891401</identifier><identifier>CODEN: ORLJAH</identifier><language>eng</language><publisher>Basel, Switzerland: Karger</publisher><subject>Abnormalities, Multiple ; Airway Obstruction ; Airway Obstruction - etiology ; Airway Obstruction - surgery ; Arthrogryposis ; Biological and medical sciences ; Case Report ; Clubfoot ; Craniocarpotarsal dysplasia ; Fatal Outcome ; Fingers ; Fingers - abnormalities ; Freeman-Sheldon syndrome ; Human health sciences ; Humans ; Infant ; Male ; Medical sciences ; Microstomia ; Microstomia - complications ; Neck ; Neck - abnormalities ; Neonatal airway obstruction ; Neurologie ; Neurology ; Non tumoral diseases ; Otorhinolaryngology. Stomatology ; Pediatrics ; Pédiatrie ; Retrognathia - complications ; Retrognathism ; Sciences de la santé humaine ; Syndrome ; Tracheostomy ; Tracheostomy - instrumentation ; Tracheostomy - methods ; Upper respiratory tract, upper alimentary tract, paranasal sinuses, salivary glands: diseases, semeiology</subject><ispartof>O.R.L. Journal for oto-rhino-laryngology and its related specialties, 2002-01, Vol.64 (1), p.53-56</ispartof><rights>2002 S. Karger AG, Basel</rights><rights>2002 INIST-CNRS</rights><rights>Copyright (c) 2002 S. Karger AG, Basel</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c402t-18a8f8cbc0a737fc9a1a364c810b8a724059585a6aa78b35588cae12ece5586e3</citedby><cites>FETCH-LOGICAL-c402t-18a8f8cbc0a737fc9a1a364c810b8a724059585a6aa78b35588cae12ece5586e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,2427,4021,27921,27922,27923</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13498343$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11891401$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schefels, Joerg</creatorcontrib><creatorcontrib>Wenzl, Tobias G.</creatorcontrib><creatorcontrib>Merz, Ulrich</creatorcontrib><creatorcontrib>Ramaekers, Vincent</creatorcontrib><creatorcontrib>Holzki, Josef</creatorcontrib><creatorcontrib>Rudnik-Schoeneborn, Sabine</creatorcontrib><creatorcontrib>Hermanns, Benita</creatorcontrib><creatorcontrib>Hörnchen, Helmut</creatorcontrib><title>Functional Upper Airway Obstruction in a Child with Freeman-Sheldon Syndrome</title><title>O.R.L. Journal for oto-rhino-laryngology and its related specialties</title><addtitle>ORL</addtitle><description>Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus and generalized muscular hypertension. Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose. Obstruction of the upper airway tract resulting in tracheostomy has only been described twice. The described child manifested the typical dysmorphic features of Freeman-Sheldon syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. The boy died at the age of 7 months after accidental decannulation of the tracheostoma during sleep. He did not show anatomical or histopathological abnormalities in the pharyngeal, laryngeal or tracheal regions. We assume that the only explanation of the repeated obstructive episodes is a functional muscular obstruction.</description><subject>Abnormalities, Multiple</subject><subject>Airway Obstruction</subject><subject>Airway Obstruction - etiology</subject><subject>Airway Obstruction - surgery</subject><subject>Arthrogryposis</subject><subject>Biological and medical sciences</subject><subject>Case Report</subject><subject>Clubfoot</subject><subject>Craniocarpotarsal dysplasia</subject><subject>Fatal Outcome</subject><subject>Fingers</subject><subject>Fingers - abnormalities</subject><subject>Freeman-Sheldon syndrome</subject><subject>Human health sciences</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microstomia</subject><subject>Microstomia - complications</subject><subject>Neck</subject><subject>Neck - abnormalities</subject><subject>Neonatal airway obstruction</subject><subject>Neurologie</subject><subject>Neurology</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. 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Stomatology</topic><topic>Pediatrics</topic><topic>Pédiatrie</topic><topic>Retrognathia - complications</topic><topic>Retrognathism</topic><topic>Sciences de la santé humaine</topic><topic>Syndrome</topic><topic>Tracheostomy</topic><topic>Tracheostomy - instrumentation</topic><topic>Tracheostomy - methods</topic><topic>Upper respiratory tract, upper alimentary tract, paranasal sinuses, salivary glands: diseases, semeiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schefels, Joerg</creatorcontrib><creatorcontrib>Wenzl, Tobias G.</creatorcontrib><creatorcontrib>Merz, Ulrich</creatorcontrib><creatorcontrib>Ramaekers, Vincent</creatorcontrib><creatorcontrib>Holzki, Josef</creatorcontrib><creatorcontrib>Rudnik-Schoeneborn, Sabine</creatorcontrib><creatorcontrib>Hermanns, Benita</creatorcontrib><creatorcontrib>Hörnchen, Helmut</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest Nursing and Allied Health Journals</collection><collection>Health Medical collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest research library</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>Université de Liège - Open Repository and Bibliography (ORBI)</collection><jtitle>O.R.L. Journal for oto-rhino-laryngology and its related specialties</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schefels, Joerg</au><au>Wenzl, Tobias G.</au><au>Merz, Ulrich</au><au>Ramaekers, Vincent</au><au>Holzki, Josef</au><au>Rudnik-Schoeneborn, Sabine</au><au>Hermanns, Benita</au><au>Hörnchen, Helmut</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Functional Upper Airway Obstruction in a Child with Freeman-Sheldon Syndrome</atitle><jtitle>O.R.L. Journal for oto-rhino-laryngology and its related specialties</jtitle><addtitle>ORL</addtitle><date>2002-01</date><risdate>2002</risdate><volume>64</volume><issue>1</issue><spage>53</spage><epage>56</epage><pages>53-56</pages><issn>0301-1569</issn><issn>1423-0275</issn><eissn>1423-0275</eissn><coden>ORLJAH</coden><abstract>Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus and generalized muscular hypertension. Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose. Obstruction of the upper airway tract resulting in tracheostomy has only been described twice. The described child manifested the typical dysmorphic features of Freeman-Sheldon syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. The boy died at the age of 7 months after accidental decannulation of the tracheostoma during sleep. He did not show anatomical or histopathological abnormalities in the pharyngeal, laryngeal or tracheal regions. We assume that the only explanation of the repeated obstructive episodes is a functional muscular obstruction.</abstract><cop>Basel, Switzerland</cop><pub>Karger</pub><pmid>11891401</pmid><doi>10.1159/000049271</doi><tpages>4</tpages></addata></record> |
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| ispartof | O.R.L. Journal for oto-rhino-laryngology and its related specialties, 2002-01, Vol.64 (1), p.53-56 |
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| source | MEDLINE; Karger Journals Complete; Alma/SFX Local Collection; Karger:Jisc Collections:ORL, Ophthalmology, Dental Medicine, Obstetrics, Gynecology and Psychology, Psychiatry Archive Collection (2012-2112) |
| subjects | Abnormalities, Multiple Airway Obstruction Airway Obstruction - etiology Airway Obstruction - surgery Arthrogryposis Biological and medical sciences Case Report Clubfoot Craniocarpotarsal dysplasia Fatal Outcome Fingers Fingers - abnormalities Freeman-Sheldon syndrome Human health sciences Humans Infant Male Medical sciences Microstomia Microstomia - complications Neck Neck - abnormalities Neonatal airway obstruction Neurologie Neurology Non tumoral diseases Otorhinolaryngology. Stomatology Pediatrics Pédiatrie Retrognathia - complications Retrognathism Sciences de la santé humaine Syndrome Tracheostomy Tracheostomy - instrumentation Tracheostomy - methods Upper respiratory tract, upper alimentary tract, paranasal sinuses, salivary glands: diseases, semeiology |
| title | Functional Upper Airway Obstruction in a Child with Freeman-Sheldon Syndrome |
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