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<!--
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UID=869800
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ConceptID=C4024230
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Contracture of the distal interphalangeal joint of the fingers</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>869800</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4024230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009697">HP:0009697</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Contracture of the distal interphalangeal joint of the fingers</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/369611" ref="tree=MeSH" title="MedGen record for Limb joint contracture">Limb joint contracture</a></span><ul><li><span class="TLline"><a href="/medgen/413001" ref="tree=MeSH" title="MedGen record for Upper-limb joint contracture">Upper-limb joint contracture</a></span><ul><li><span class="TLline"><a href="/medgen/56382" ref="tree=MeSH" title="MedGen record for Joint contracture of the hand">Joint contracture of the hand</a></span><ul><li><span class="TLline"><a href="/medgen/575400" ref="tree=MeSH" title="MedGen record for Finger joint contracture">Finger joint contracture</a></span><ul><li><span class="TLline"><a href="/medgen/387792" ref="tree=MeSH" title="MedGen record for Flexion contracture of finger">Flexion contracture of finger</a></span><ul><li><span class="TLline"><a href="/medgen/867413" ref="tree=MeSH" title="MedGen record for Interphalangeal joint contracture of finger">Interphalangeal joint contracture of finger</a></span><ul><li><span class="matched_ds">Contracture of the distal interphalangeal joint of the fingers</span><ul><li><span class="TLline"><a href="/medgen/869871" ref="tree=MeSH" title="MedGen record for Contracture of the distal interphalangeal joint of the 2nd finger">Contracture of the distal interphalangeal joint of the 2nd finger</a></span></li><li><span class="TLline"><a href="/medgen/869913" ref="tree=MeSH" title="MedGen record for Contracture of the distal interphalangeal joint of the 3rd finger">Contracture of the distal interphalangeal joint of the 3rd finger</a></span></li><li><span class="TLline"><a href="/medgen/870045" ref="tree=MeSH" title="MedGen record for Contracture of the distal interphalangeal joint of the 4th finger">Contracture of the distal interphalangeal joint of the 4th finger</a></span></li><li><span class="TLline"><a href="/medgen/870120" ref="tree=MeSH" title="MedGen record for Contracture of the distal interphalangeal joint of the 5th finger">Contracture of the distal interphalangeal joint of the 5th finger</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_88566"><div><strong>Mucopolysaccharidosis, MPS-I-H/S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88566</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0086431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I: Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/88566">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340266"><div><strong>Wiedemann-Steiner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340266</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340266">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354620"><div><strong>Camptomelic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354620</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1861922</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354620">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385152"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2Y</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385152</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4511482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive myopathy with rigid spine and distal joint contractures (MRRSDC) is characterized by onset of slowly progressive muscle weakness in the first or second decades of life. There is initial involvement of the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function; some patients may have mild cardiac involvement (summary by Kayman-Kurekci et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385152">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2Y</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354620" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptomelic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_88566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-I-H/S</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wiedemann-Steiner syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36593154">Boutonniere Versus Pseudoboutonniere Deformities: Pathoanatomy, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanson ZC,
|
||
Thompson RG,
|
||
Andrews JR,
|
||
Lourie GM</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2023 May;48(5):489-497.
|
||
Epub 2022 Dec 31
|
||
doi: 10.1016/j.jhsa.2022.10.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36593154" target="_blank">36593154</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28802534">Cheilectomy for Treatment of Symptomatic Distal Interphalangeal Joint Osteoarthritis: A Review of 78 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin EA,
|
||
Papatheodorou LK,
|
||
Sotereanos DG</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2017 Nov;42(11):889-893.
|
||
Epub 2017 Aug 9
|
||
doi: 10.1016/j.jhsa.2017.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28802534" target="_blank">28802534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23712089">The psychoflexed hand: new perspectives in diagnosis, classification and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petrella L,
|
||
Belkheyar Z,
|
||
Oberlin C</span><br />
|
||
<span class="medgenPMjournal">Chir Main</span>
|
||
2013 Sep;32(4):245-50.
|
||
Epub 2013 May 9
|
||
doi: 10.1016/j.main.2013.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23712089" target="_blank">23712089</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(contracture%20of%20the%20distal%20interphalangeal%20joint%20of%20the%20fingers)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35277302">Passive Manipulation for Proximal Interphalangeal Joint Extension Contractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gary CS,
|
||
Wang JS,
|
||
Shubinets V,
|
||
Sanghavi KK,
|
||
Katz RD,
|
||
Giladi AM,
|
||
Means KR Jr</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2023 Jul;48(7):737.e1-737.e10.
|
||
Epub 2022 Mar 8
|
||
doi: 10.1016/j.jhsa.2022.01.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35277302" target="_blank">35277302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34705780">Collagenase Tenotomy for Dupuytren Boutonniere.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denkler KA,
|
||
Vaughn CJ,
|
||
Park KM,
|
||
Hansen SL</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2021 Nov 1;148(5):764e-768e.
|
||
doi: 10.1097/PRS.0000000000008480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34705780" target="_blank">34705780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27500430">Tenosynovitis of the Hand and Wrist: A Critical Analysis Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blood TD,
|
||
Morrell NT,
|
||
Weiss AC</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2016 Mar 29;4(3)
|
||
doi: 10.2106/JBJS.RVW.O.00061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27500430" target="_blank">27500430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24127461">Condylar fractures of the proximal and middle phalanges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shewring DJ,
|
||
Miller AC,
|
||
Ghandour A</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Eur Vol</span>
|
||
2015 Jan;40(1):51-8.
|
||
Epub 2013 Oct 14
|
||
doi: 10.1177/1753193413508514.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24127461" target="_blank">24127461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15801019">Surgery of the hand in patients with systemic sclerosis: outcomes and considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogoch ER,
|
||
Gross DK</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2005 Apr;32(4):642-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15801019" target="_blank">15801019</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Contracture%20of%20the%20distal%20interphalangeal%20joint%20of%20the%20fingers%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (57)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36593154">Boutonniere Versus Pseudoboutonniere Deformities: Pathoanatomy, Diagnosis, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanson ZC,
|
||
Thompson RG,
|
||
Andrews JR,
|
||
Lourie GM</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2023 May;48(5):489-497.
|
||
Epub 2022 Dec 31
|
||
doi: 10.1016/j.jhsa.2022.10.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36593154" target="_blank">36593154</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35382999">Primary closure using a perforator flap-based technique for the treatment of Dupuytren's contracture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cooper TB,
|
||
Zhao B,
|
||
Chen X,
|
||
Li Z,
|
||
Gao W,
|
||
Yan H</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2022 Aug;75(8):2637-2643.
|
||
Epub 2022 Mar 2
|
||
doi: 10.1016/j.bjps.2022.02.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35382999" target="_blank">35382999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23712089">The psychoflexed hand: new perspectives in diagnosis, classification and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petrella L,
|
||
Belkheyar Z,
|
||
Oberlin C</span><br />
|
||
<span class="medgenPMjournal">Chir Main</span>
|
||
2013 Sep;32(4):245-50.
|
||
Epub 2013 May 9
|
||
doi: 10.1016/j.main.2013.04.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23712089" target="_blank">23712089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22182883">Reconstruction of severe contracture of the first web space using the reverse posterior interosseous artery flap.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gong X,
|
||
Lu LJ</span><br />
|
||
<span class="medgenPMjournal">J Trauma</span>
|
||
2011 Dec;71(6):1745-9.
|
||
doi: 10.1097/TA.0b013e3182325e27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22182883" target="_blank">22182883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16601414">Tendon avulsion injuries of the distal phalanx.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuttle HG,
|
||
Olvey SP,
|
||
Stern PJ</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2006 Apr;445:157-68.
|
||
doi: 10.1097/01.blo.0000205903.51727.62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16601414" target="_blank">16601414</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Contracture%20of%20the%20distal%20interphalangeal%20joint%20of%20the%20fingers%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34705780">Collagenase Tenotomy for Dupuytren Boutonniere.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denkler KA,
|
||
Vaughn CJ,
|
||
Park KM,
|
||
Hansen SL</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2021 Nov 1;148(5):764e-768e.
|
||
doi: 10.1097/PRS.0000000000008480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34705780" target="_blank">34705780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31264362">Dupuytren's contracture: involvement of the distal interphalangeal joint - a case series and anatomical dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stanley EA,
|
||
Cavallo A</span><br />
|
||
<span class="medgenPMjournal">ANZ J Surg</span>
|
||
2020 Apr;90(4):E91-E92.
|
||
Epub 2019 Jul 1
|
||
doi: 10.1111/ans.15317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31264362" target="_blank">31264362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30146387">Collagenase Clostridium histolyticum for the Treatment of Distal Interphalangeal Joint Contractures in Dupuytren Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fei TT,
|
||
Chernoff E,
|
||
Monacco NA,
|
||
Komatsu DE,
|
||
Muhlrad S,
|
||
Sampson SP,
|
||
Hurst LC,
|
||
Dagum AB</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2019 May;44(5):417.e1-417.e4.
|
||
Epub 2018 Aug 23
|
||
doi: 10.1016/j.jhsa.2018.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30146387" target="_blank">30146387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26913519">A Systematic Review of Outcomes and Complications of Primary Fingertip Reconstruction Using Reverse-Flow Homodigital Island Flaps.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Regmi S,
|
||
Gu JX,
|
||
Zhang NC,
|
||
Liu HJ</span><br />
|
||
<span class="medgenPMjournal">Aesthetic Plast Surg</span>
|
||
2016 Apr;40(2):277-83.
|
||
Epub 2016 Feb 25
|
||
doi: 10.1007/s00266-016-0624-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26913519" target="_blank">26913519</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11328395">Hereditary palmoplantar keratoderma (four cases in three generations).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sehgal VN,
|
||
Kumar S,
|
||
Narayan S</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2001 Feb;40(2):130-2.
|
||
doi: 10.1046/j.1365-4362.2001.01116.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11328395" target="_blank">11328395</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Contracture%20of%20the%20distal%20interphalangeal%20joint%20of%20the%20fingers%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38944344">Long-term results of the Malingue technique in the surgical treatment of Dupuytren's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albert T,
|
||
Saint-Cast Y,
|
||
Raimbeau G,
|
||
Bigorre N</span><br />
|
||
<span class="medgenPMjournal">Hand Surg Rehabil</span>
|
||
2024 Sep;43(4):101744.
|
||
Epub 2024 Jun 27
|
||
doi: 10.1016/j.hansur.2024.101744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38944344" target="_blank">38944344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34705780">Collagenase Tenotomy for Dupuytren Boutonniere.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Denkler KA,
|
||
Vaughn CJ,
|
||
Park KM,
|
||
Hansen SL</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2021 Nov 1;148(5):764e-768e.
|
||
doi: 10.1097/PRS.0000000000008480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34705780" target="_blank">34705780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30146387">Collagenase Clostridium histolyticum for the Treatment of Distal Interphalangeal Joint Contractures in Dupuytren Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fei TT,
|
||
Chernoff E,
|
||
Monacco NA,
|
||
Komatsu DE,
|
||
Muhlrad S,
|
||
Sampson SP,
|
||
Hurst LC,
|
||
Dagum AB</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2019 May;44(5):417.e1-417.e4.
|
||
Epub 2018 Aug 23
|
||
doi: 10.1016/j.jhsa.2018.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30146387" target="_blank">30146387</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28802534">Cheilectomy for Treatment of Symptomatic Distal Interphalangeal Joint Osteoarthritis: A Review of 78 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin EA,
|
||
Papatheodorou LK,
|
||
Sotereanos DG</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2017 Nov;42(11):889-893.
|
||
Epub 2017 Aug 9
|
||
doi: 10.1016/j.jhsa.2017.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28802534" target="_blank">28802534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24275559">Arthrodesis of the thumb interphalangeal joint and finger distal interphalangeal joints with a headless compression screw.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cox C,
|
||
Earp BE,
|
||
Floyd WE 4th,
|
||
Blazar PE</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2014 Jan;39(1):24-8.
|
||
Epub 2013 Nov 23
|
||
doi: 10.1016/j.jhsa.2013.09.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24275559" target="_blank">24275559</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Contracture%20of%20the%20distal%20interphalangeal%20joint%20of%20the%20fingers%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38944344">Long-term results of the Malingue technique in the surgical treatment of Dupuytren's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albert T,
|
||
Saint-Cast Y,
|
||
Raimbeau G,
|
||
Bigorre N</span><br />
|
||
<span class="medgenPMjournal">Hand Surg Rehabil</span>
|
||
2024 Sep;43(4):101744.
|
||
Epub 2024 Jun 27
|
||
doi: 10.1016/j.hansur.2024.101744.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38944344" target="_blank">38944344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36650507">Mathematical analysis in the design of digital artery-based V-Y advancement flap in treating proximal interphalangeal joint flexion contracture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Su PH,
|
||
Hsu CE,
|
||
Ho TY,
|
||
Wei BH,
|
||
Wang WC,
|
||
Chiu YC</span><br />
|
||
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2023 Jan 17;24(1):33.
|
||
doi: 10.1186/s12891-023-06158-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36650507" target="_blank">36650507</a><a href="/pmc/articles/PMC9843851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34094016">Anatomic Repair of the Central Slip with Anchor Suture Augmentation for Treatment of Established Boutonniere Deformity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JK,
|
||
Lee S,
|
||
Kim M,
|
||
Jo S,
|
||
Cho JW,
|
||
Han SH</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Surg</span>
|
||
2021 Jun;13(2):243-251.
|
||
Epub 2021 Mar 9
|
||
doi: 10.4055/cios20170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34094016" target="_blank">34094016</a><a href="/pmc/articles/PMC8173229" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28802534">Cheilectomy for Treatment of Symptomatic Distal Interphalangeal Joint Osteoarthritis: A Review of 78 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin EA,
|
||
Papatheodorou LK,
|
||
Sotereanos DG</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Am</span>
|
||
2017 Nov;42(11):889-893.
|
||
Epub 2017 Aug 9
|
||
doi: 10.1016/j.jhsa.2017.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28802534" target="_blank">28802534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/629177">Claw finger.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mentari A</span><br />
|
||
<span class="medgenPMjournal">Am J Occup Ther</span>
|
||
1978 Jan;32(1):35-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/629177" target="_blank">629177</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Contracture%20of%20the%20distal%20interphalangeal%20joint%20of%20the%20fingers%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/26913519">A Systematic Review of Outcomes and Complications of Primary Fingertip Reconstruction Using Reverse-Flow Homodigital Island Flaps.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Regmi S,
|
||
Gu JX,
|
||
Zhang NC,
|
||
Liu HJ</span><br />
|
||
<span class="medgenPMjournal">Aesthetic Plast Surg</span>
|
||
2016 Apr;40(2):277-83.
|
||
Epub 2016 Feb 25
|
||
doi: 10.1007/s00266-016-0624-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26913519" target="_blank">26913519</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/15801019">Surgery of the hand in patients with systemic sclerosis: outcomes and considerations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bogoch ER,
|
||
Gross DK</span><br />
|
||
<span class="medgenPMjournal">J Rheumatol</span>
|
||
2005 Apr;32(4):642-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15801019" target="_blank">15801019</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Contracture%20of%20the%20distal%20interphalangeal%20joint%20of%20the%20fingers%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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