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<!--
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||
UID=351283
|
||
ConceptID=C1865038
|
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-->
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<!--imgCountBooks = 0--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Figure 1" src="/projects/medgen/images/thumb/0b2aa98d4fef46c4.1.thumb.jpg" src-large="/projects/medgen/images/0b2aa98d4fef46c4.1.jpg" /></a><br /><a href="http://elementsofmorphology.nih.gov/index.cgi?tid=0b2aa98d4fef46c4" target="_blank" title="Elements of Morphology: Human Malformation Terminology - NHGRI">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Broad toe</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351283</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.">C1865038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Broad toes</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001837">HP:0001837</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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>
|
||
<div class="portlet_content ln">Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. [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 mgSection" id="ID_118">
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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="TLline">Broad toe</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/868065" ref="tree=MeSH" title="MedGen record for Abnormality of limb bone">Abnormality of limb bone</a></span><ul><li><span class="TLline"><a href="/medgen/904271" ref="tree=MeSH" title="MedGen record for Abnormal limb bone morphology">Abnormal limb bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/763618" ref="tree=MeSH" title="MedGen record for Abnormal digit morphology">Abnormal digit morphology</a></span><ul><li><span class="TLline"><a href="/medgen/390611" ref="tree=MeSH" title="MedGen record for Abnormal toe morphology">Abnormal toe morphology</a></span><ul><li><span class="matched_ds">Broad toe</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_96586"><div><strong>Cranioectodermal dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96586</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.">C0432235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96586">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162917"><div><strong>Simpson-Golabi-Behmel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162917</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:">C0796154</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162917">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348333"><div><strong>Syndactyly-polydactyly-ear lobe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348333</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.">C1861347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348333">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350598"><div><strong>Osebold-Remondini syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350598</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.">C1862130</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies (summary by Opitz and Gilbert, 1985). See 602875 for a discussion of genetic heterogeneity of autosomal recessive acromesomelic dysplasia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355893"><div><strong>Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355893</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.">C1865022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393396"><div><strong>Chromosome 6pter-p24 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393396</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.">C2675486</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393396">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897984"><div><strong>Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897984</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.">C4225351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897984">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641736"><div><strong>Autosomal dominant Robinow syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641736</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.">C4551475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641736">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1770070"><div><strong>Autosomal recessive Robinow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770070</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.">C5399974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1770070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794194"><div><strong>Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794194</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.">C5561984</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities. About half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects (Connaughton et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794238"><div><strong>Acromesomelic dysplasia 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794238</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.">C5562028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acromesomelic dysplasia-4 (AMD4) is characterized by disproportionate short stature due to mesomelic shortening of the limbs. Radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age (Diaz-Gonzalez et al., 2022). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1798903"><div><strong>Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1798903</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.">C5567480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Infantile hypotonia with psychomotor retardation and characteristic facies-3 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Most affected individuals show very poor, if any, normal psychomotor development, poor speech, and inability to walk independently (summary by Bhoj et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (615419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1798903">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromesomelic dysplasia 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Robinow syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Robinow syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 6pter-p24 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cranioectodermal dysplasia 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (12)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1798903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia, infantile, with psychomotor retardation and characteristic facies 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osebold-Remondini syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simpson-Golabi-Behmel syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly-polydactyly-ear lobe syndrome</a></div></span></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/32555077">The effectiveness of shoe modifications and orthotics in the conservative treatment of Civinini-Morton syndrome: state of art.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colò G,
|
||
Rava A,
|
||
Samaila EM,
|
||
Palazzolo A,
|
||
Talesa G,
|
||
Schiraldi M,
|
||
Magnan B,
|
||
Ferracini R,
|
||
Felli L</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2020 May 30;91(4-S):60-68.
|
||
doi: 10.23750/abm.v91i4-S.9713.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32555077" target="_blank">32555077</a><a href="/pmc/articles/PMC7944831" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22broad%20toe%22%5Btiab%3A~0%5D)%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 (1)</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/37282850">Dermatological findings in Rubinstein-Taybi Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cammarata-Scalisi F,
|
||
Diociaiuti A,
|
||
Cárdenas Tadich A,
|
||
Sandoval X,
|
||
Oranges T,
|
||
Filippeschi C,
|
||
Araya Castillo M,
|
||
Willoughby CE,
|
||
Cerri A,
|
||
Gervasini C,
|
||
Callea M</span><br />
|
||
<span class="medgenPMjournal">Ital J Dermatol Venerol</span>
|
||
2023 Aug;158(4):316-320.
|
||
Epub 2023 Jun 7
|
||
doi: 10.23736/S2784-8671.23.07547-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37282850" target="_blank">37282850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31648997">Forefoot malformations, deformities and other congenital defects in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rampal V,
|
||
Giuliano F</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2020 Feb;106(1S):S115-S123.
|
||
Epub 2019 Oct 21
|
||
doi: 10.1016/j.otsr.2019.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31648997" target="_blank">31648997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24390342">Genetics of rheumatoid arthritis contributes to biology and drug discovery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okada Y,
|
||
Wu D,
|
||
Trynka G,
|
||
Raj T,
|
||
Terao C,
|
||
Ikari K,
|
||
Kochi Y,
|
||
Ohmura K,
|
||
Suzuki A,
|
||
Yoshida S,
|
||
Graham RR,
|
||
Manoharan A,
|
||
Ortmann W,
|
||
Bhangale T,
|
||
Denny JC,
|
||
Carroll RJ,
|
||
Eyler AE,
|
||
Greenberg JD,
|
||
Kremer JM,
|
||
Pappas DA,
|
||
Jiang L,
|
||
Yin J,
|
||
Ye L,
|
||
Su DF,
|
||
Yang J,
|
||
Xie G,
|
||
Keystone E,
|
||
Westra HJ,
|
||
Esko T,
|
||
Metspalu A,
|
||
Zhou X,
|
||
Gupta N,
|
||
Mirel D,
|
||
Stahl EA,
|
||
Diogo D,
|
||
Cui J,
|
||
Liao K,
|
||
Guo MH,
|
||
Myouzen K,
|
||
Kawaguchi T,
|
||
Coenen MJ,
|
||
van Riel PL,
|
||
van de Laar MA,
|
||
Guchelaar HJ,
|
||
Huizinga TW,
|
||
Dieudé P,
|
||
Mariette X,
|
||
Bridges SL Jr,
|
||
Zhernakova A,
|
||
Toes RE,
|
||
Tak PP,
|
||
Miceli-Richard C,
|
||
Bang SY,
|
||
Lee HS,
|
||
Martin J,
|
||
Gonzalez-Gay MA,
|
||
Rodriguez-Rodriguez L,
|
||
Rantapää-Dahlqvist S,
|
||
Arlestig L,
|
||
Choi HK,
|
||
Kamatani Y,
|
||
Galan P,
|
||
Lathrop M;
|
||
RACI consortium;
|
||
GARNET consortium,
|
||
Eyre S,
|
||
Bowes J,
|
||
Barton A,
|
||
de Vries N,
|
||
Moreland LW,
|
||
Criswell LA,
|
||
Karlson EW,
|
||
Taniguchi A,
|
||
Yamada R,
|
||
Kubo M,
|
||
Liu JS,
|
||
Bae SC,
|
||
Worthington J,
|
||
Padyukov L,
|
||
Klareskog L,
|
||
Gregersen PK,
|
||
Raychaudhuri S,
|
||
Stranger BE,
|
||
De Jager PL,
|
||
Franke L,
|
||
Visscher PM,
|
||
Brown MA,
|
||
Yamanaka H,
|
||
Mimori T,
|
||
Takahashi A,
|
||
Xu H,
|
||
Behrens TW,
|
||
Siminovitch KA,
|
||
Momohara S,
|
||
Matsuda F,
|
||
Yamamoto K,
|
||
Plenge RM</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2014 Feb 20;506(7488):376-81.
|
||
Epub 2013 Dec 25
|
||
doi: 10.1038/nature12873.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24390342" target="_blank">24390342</a><a href="/pmc/articles/PMC3944098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24352235">The complete genome sequence of a Neanderthal from the Altai Mountains.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prüfer K,
|
||
Racimo F,
|
||
Patterson N,
|
||
Jay F,
|
||
Sankararaman S,
|
||
Sawyer S,
|
||
Heinze A,
|
||
Renaud G,
|
||
Sudmant PH,
|
||
de Filippo C,
|
||
Li H,
|
||
Mallick S,
|
||
Dannemann M,
|
||
Fu Q,
|
||
Kircher M,
|
||
Kuhlwilm M,
|
||
Lachmann M,
|
||
Meyer M,
|
||
Ongyerth M,
|
||
Siebauer M,
|
||
Theunert C,
|
||
Tandon A,
|
||
Moorjani P,
|
||
Pickrell J,
|
||
Mullikin JC,
|
||
Vohr SH,
|
||
Green RE,
|
||
Hellmann I,
|
||
Johnson PL,
|
||
Blanche H,
|
||
Cann H,
|
||
Kitzman JO,
|
||
Shendure J,
|
||
Eichler EE,
|
||
Lein ES,
|
||
Bakken TE,
|
||
Golovanova LV,
|
||
Doronichev VB,
|
||
Shunkov MV,
|
||
Derevianko AP,
|
||
Viola B,
|
||
Slatkin M,
|
||
Reich D,
|
||
Kelso J,
|
||
Pääbo S</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2014 Jan 2;505(7481):43-9.
|
||
Epub 2013 Dec 18
|
||
doi: 10.1038/nature12886.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24352235" target="_blank">24352235</a><a href="/pmc/articles/PMC4031459" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18297959">Acute and chronic paronychia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rigopoulos D,
|
||
Larios G,
|
||
Gregoriou S,
|
||
Alevizos A</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2008 Feb 1;77(3):339-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18297959" target="_blank">18297959</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20toe%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 (83)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008994">Peripherally-induced Movement Disorders: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenka A,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:8.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008994" target="_blank">37008994</a><a href="/pmc/articles/PMC10064913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34690279">Updates in cutaneous manifestations of systemic vasculitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elbendary A,
|
||
Abdel-Halim MRE,
|
||
Ragab G</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
||
2022 Jan 1;34(1):25-32.
|
||
doi: 10.1097/BOR.0000000000000847.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34690279" target="_blank">34690279</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32892975">Posterior Ankle Impingement and Flexor Hallucis Longus Pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharpe BD,
|
||
Steginsky BD,
|
||
Suhling M,
|
||
Vora A</span><br />
|
||
<span class="medgenPMjournal">Clin Sports Med</span>
|
||
2020 Oct;39(4):911-930.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1016/j.csm.2020.06.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32892975" target="_blank">32892975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31648997">Forefoot malformations, deformities and other congenital defects in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rampal V,
|
||
Giuliano F</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2020 Feb;106(1S):S115-S123.
|
||
Epub 2019 Oct 21
|
||
doi: 10.1016/j.otsr.2019.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31648997" target="_blank">31648997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15995697">Synthetic biology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benner SA,
|
||
Sismour AM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Genet</span>
|
||
2005 Jul;6(7):533-43.
|
||
doi: 10.1038/nrg1637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15995697" target="_blank">15995697</a><a href="/pmc/articles/PMC7097405" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20toe%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 (182)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24381114">Epigenetic mechanisms of Rubinstein-Taybi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park E,
|
||
Kim Y,
|
||
Ryu H,
|
||
Kowall NW,
|
||
Lee J,
|
||
Ryu H</span><br />
|
||
<span class="medgenPMjournal">Neuromolecular Med</span>
|
||
2014 Mar;16(1):16-24.
|
||
Epub 2014 Jan 1
|
||
doi: 10.1007/s12017-013-8285-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24381114" target="_blank">24381114</a><a href="/pmc/articles/PMC3948208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21173736">Cryoglobulinemia manifested by gangraene of almost all fingers and toes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vacula I,
|
||
Ambrózy E,
|
||
Makovník M,
|
||
Stvrtina S,
|
||
Babál P,
|
||
Stvrtinová V</span><br />
|
||
<span class="medgenPMjournal">Int Angiol</span>
|
||
2010 Dec;29(6):560-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21173736" target="_blank">21173736</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18297959">Acute and chronic paronychia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rigopoulos D,
|
||
Larios G,
|
||
Gregoriou S,
|
||
Alevizos A</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2008 Feb 1;77(3):339-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18297959" target="_blank">18297959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12196660">Comparison of sensory testing on different toe surfaces: implications for neuropathy screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimitrakoudis D,
|
||
Bril V</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2002 Aug 27;59(4):611-3.
|
||
doi: 10.1212/wnl.59.4.611.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12196660" target="_blank">12196660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/733136">Diphenylhydantoin teratogenicity in man.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang TS,
|
||
Chi CC,
|
||
Tsai CJ,
|
||
Chang MJ</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
1978 Dec;52(6):682-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/733136" target="_blank">733136</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20toe%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 (40)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008994">Peripherally-induced Movement Disorders: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenka A,
|
||
Jankovic J</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:8.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008994" target="_blank">37008994</a><a href="/pmc/articles/PMC10064913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35064915">Reliability of Field-Based Fitness Tests in Adults: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuenca-Garcia M,
|
||
Marin-Jimenez N,
|
||
Perez-Bey A,
|
||
Sánchez-Oliva D,
|
||
Camiletti-Moiron D,
|
||
Alvarez-Gallardo IC,
|
||
Ortega FB,
|
||
Castro-Piñero J</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2022 Aug;52(8):1961-1979.
|
||
Epub 2022 Jan 22
|
||
doi: 10.1007/s40279-021-01635-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35064915" target="_blank">35064915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31648997">Forefoot malformations, deformities and other congenital defects in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rampal V,
|
||
Giuliano F</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2020 Feb;106(1S):S115-S123.
|
||
Epub 2019 Oct 21
|
||
doi: 10.1016/j.otsr.2019.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31648997" target="_blank">31648997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21782042">Limb skeletal malformations - what the HOX is going on?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brison N,
|
||
Tylzanowski P,
|
||
Debeer P</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2012 Jan;55(1):1-7.
|
||
Epub 2011 Jul 2
|
||
doi: 10.1016/j.ejmg.2011.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21782042" target="_blank">21782042</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18297959">Acute and chronic paronychia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rigopoulos D,
|
||
Larios G,
|
||
Gregoriou S,
|
||
Alevizos A</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2008 Feb 1;77(3):339-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18297959" target="_blank">18297959</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20toe%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 (74)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35064915">Reliability of Field-Based Fitness Tests in Adults: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuenca-Garcia M,
|
||
Marin-Jimenez N,
|
||
Perez-Bey A,
|
||
Sánchez-Oliva D,
|
||
Camiletti-Moiron D,
|
||
Alvarez-Gallardo IC,
|
||
Ortega FB,
|
||
Castro-Piñero J</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2022 Aug;52(8):1961-1979.
|
||
Epub 2022 Jan 22
|
||
doi: 10.1007/s40279-021-01635-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35064915" target="_blank">35064915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33372358">Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dissanayake R,
|
||
Senanayake MP,
|
||
Fernando J,
|
||
Robertson SP,
|
||
Dissanayake VHW,
|
||
Sirisena ND</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2021 Apr;185(4):1317-1320.
|
||
Epub 2020 Dec 29
|
||
doi: 10.1002/ajmg.a.62058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33372358" target="_blank">33372358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32041746">Antibodies and B cells recognising citrullinated proteins display a broad cross-reactivity towards other post-translational modifications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kissel T,
|
||
Reijm S,
|
||
Slot LM,
|
||
Cavallari M,
|
||
Wortel CM,
|
||
Vergroesen RD,
|
||
Stoeken-Rijsbergen G,
|
||
Kwekkeboom JC,
|
||
Kampstra A,
|
||
Levarht E,
|
||
Drijfhout JW,
|
||
Bang H,
|
||
Bonger KM,
|
||
Janssen G,
|
||
van Veelen PA,
|
||
Huizinga T,
|
||
Scherer HU,
|
||
Reth M,
|
||
Toes R</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2020 Apr;79(4):472-480.
|
||
Epub 2020 Feb 10
|
||
doi: 10.1136/annrheumdis-2019-216499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32041746" target="_blank">32041746</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27282200">Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mégarbané A,
|
||
Al-Ali R,
|
||
Choucair N,
|
||
Lek M,
|
||
Wang E,
|
||
Ladjimi M,
|
||
Rose CM,
|
||
Hobeika R,
|
||
Macary Y,
|
||
Temanni R,
|
||
Jithesh PV,
|
||
Chouchane A,
|
||
Sastry KS,
|
||
Thomas R,
|
||
Tomei S,
|
||
Liu W,
|
||
Marincola FM,
|
||
MacArthur D,
|
||
Chouchane L</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2016 Jun 10;17(1):42.
|
||
doi: 10.1186/s12881-016-0304-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27282200" target="_blank">27282200</a><a href="/pmc/articles/PMC4901505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7874169">A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muenke M,
|
||
Schell U,
|
||
Hehr A,
|
||
Robin NH,
|
||
Losken HW,
|
||
Schinzel A,
|
||
Pulleyn LJ,
|
||
Rutland P,
|
||
Reardon W,
|
||
Malcolm S</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
1994 Nov;8(3):269-74.
|
||
doi: 10.1038/ng1194-269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7874169" target="_blank">7874169</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20toe%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 (87)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37161850">Some children with idiopathic toe walking display sensory processing difficulties but not all: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donne JH,
|
||
Powell JA,
|
||
Fahey MC,
|
||
Beare R,
|
||
Kolic J,
|
||
Williams CM</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2023 Aug;112(8):1620-1632.
|
||
Epub 2023 May 23
|
||
doi: 10.1111/apa.16821.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37161850" target="_blank">37161850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35064915">Reliability of Field-Based Fitness Tests in Adults: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cuenca-Garcia M,
|
||
Marin-Jimenez N,
|
||
Perez-Bey A,
|
||
Sánchez-Oliva D,
|
||
Camiletti-Moiron D,
|
||
Alvarez-Gallardo IC,
|
||
Ortega FB,
|
||
Castro-Piñero J</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2022 Aug;52(8):1961-1979.
|
||
Epub 2022 Jan 22
|
||
doi: 10.1007/s40279-021-01635-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35064915" target="_blank">35064915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31351522">Shoe design for older adults: Evidence from a systematic review on the elements of optimal footwear.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jellema AH,
|
||
Huysmans T,
|
||
Hartholt K,
|
||
van der Cammen TJM</span><br />
|
||
<span class="medgenPMjournal">Maturitas</span>
|
||
2019 Sep;127:64-81.
|
||
Epub 2019 Jun 6
|
||
doi: 10.1016/j.maturitas.2019.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31351522" target="_blank">31351522</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24146360">Subungual exostosis of the toes: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DaCambra MP,
|
||
Gupta SK,
|
||
Ferri-de-Barros F</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
2014 Apr;472(4):1251-9.
|
||
Epub 2013 Oct 22
|
||
doi: 10.1007/s11999-013-3345-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24146360" target="_blank">24146360</a><a href="/pmc/articles/PMC3940761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/22960092">Synovial inflammation, immune cells and their cytokines in osteoarthritis: a review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">de Lange-Brokaar BJ,
|
||
Ioan-Facsinay A,
|
||
van Osch GJ,
|
||
Zuurmond AM,
|
||
Schoones J,
|
||
Toes RE,
|
||
Huizinga TW,
|
||
Kloppenburg M</span><br />
|
||
<span class="medgenPMjournal">Osteoarthritis Cartilage</span>
|
||
2012 Dec;20(12):1484-99.
|
||
Epub 2012 Sep 7
|
||
doi: 10.1016/j.joca.2012.08.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22960092" target="_blank">22960092</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Broad%20toe%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 (6)</a></div></div>
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