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1013 lines
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<!--
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||
UID=57518
|
||
ConceptID=C0152227
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epiphora</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57518</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.">C0152227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Epiphoras</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Excessive tear production (418035005); Crocodile tears (418035005); Tearing (193982009); Epiphora (193982009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><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:0009926">HP:0009926</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001793" target="_blank">MONDO:0001793</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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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">Abnormally increased lacrimation, that is, excessive tearing (watering eye). [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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152227[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=57518">C</a></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">Epiphora</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/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/867427" ref="tree=MeSH" title="MedGen record for Lacrimation abnormality">Lacrimation abnormality</a></span><ul><li><span class="matched_ds">Epiphora</span><ul><li><span class="TLline"><a href="/medgen/1633264" ref="tree=MeSH" title="MedGen record for Decreased tear drainage">Decreased tear drainage</a></span></li><li><span class="TLline"><a href="/medgen/1642181" ref="tree=MeSH" title="MedGen record for Increased tear production">Increased tear production</a></span><ul><li><span class="TLline"><a href="/medgen/1642109" ref="tree=MeSH" title="MedGen record for Increased basal tear production">Increased basal tear production</a></span></li><li><span class="TLline"><a href="/medgen/1634732" ref="tree=MeSH" title="MedGen record for Reflex tearing">Reflex tearing</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1636062" ref="tree=MeSH" title="MedGen record for Lacrimal pump failure">Lacrimal pump failure</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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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_75520"><div><strong>Keratosis pilaris atrophicans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75520</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.">C0263428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75520">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_216941"><div><strong>Dyskeratosis congenita, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>216941</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.">C1148551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/216941">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_220887"><div><strong>Hereditary mucoepithelial dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220887</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.">C1274795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis. However, the clinical triad of nonscarring alopecia, well-demarcated fiery red mucosa, and psoriasiform perineal involvement has been consistently observed (review by Boralevi et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220887">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332018"><div><strong>Familial congenital nasolacrimal duct obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332018</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.">C1835612</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011). Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332018">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372107"><div><strong>Keratitis fugax hereditaria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372107</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.">C1835697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372107">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_327093"><div><strong>Hyperostosis cranialis interna</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327093</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.">C1840404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperostosis cranialis interna (HCIN) is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/327093">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337598"><div><strong>Cone-rod dystrophy 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337598</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.">C1846529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-rod dystrophy-10 (CORD10) is characterized by progressive loss of visual acuity and color vision, followed by night blindness and loss of peripheral vision. Patients may experience photophobia and epiphora in bright light (Abid et al., 2006). Mutation in SEMA4A can also cause a form of retinitis pigmentosa (RP35; 610282). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342263"><div><strong>Epithelial recurrent erosion dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342263</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.">C1852551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epithelial recurrent erosion dystrophy (ERED) is characterized by frequent painful recurrent corneal erosions, with onset in the first decade of life and subsequent gradual decrease in frequency, with cessation in the third or fourth decade. Small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity, in the Bowman layer and immediately subjacent anterior stroma, varying from 0.2 to 1.5 mm in diameter, appear to be clinically diagnostic of ERED (Oliver et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342263">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343836"><div><strong>Posterior polymorphous corneal dystrophy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343836</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.">C1852555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343836">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381360"><div><strong>Cone-rod dystrophy 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381360</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.">C1854180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381360">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341705"><div><strong>Dyskeratosis congenita, autosomal recessive 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341705</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.">C1857144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341705">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358378"><div><strong>Nasopalpebral lipoma-coloboma syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358378</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.">C1868660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358378">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394568"><div><strong>Sarcoidosis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394568</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.">C2697310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394568">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462795"><div><strong>Dyskeratosis congenita, autosomal dominant 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462795</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.">C3151445</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462795">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905452"><div><strong>Dyskeratosis congenita, autosomal recessive 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905452</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.">C4225356</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684798"><div><strong>Corneal dystrophy, Meesmann, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684798</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.">C5231495</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meesmann corneal dystrophy-2 (MECD2) is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity (summary by Szaflik et al., 2008). For a discussion of genetic heterogeneity of Meesmann corneal dystrophy, see MECD1 (122100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684668"><div><strong>Corneal dystrophy, Meesmann, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684668</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.">C5231499</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/1684668">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823990"><div><strong>Dyskeratosis congenita, digenic</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823990</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.">C5774217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Digenic dyskeratosis congenita (DKCD) is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Some patients may have evidence of bone marrow failure, manifest as immune defects such as recurrent infections or hypogammaglobulinemia. Telomeres are shortened in patient cells. Individuals with DKCD may show severe adverse reactions to treatment with 5-FU (Tummala et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823990">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, Meesmann, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, Meesmann, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal dominant 3</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, autosomal recessive 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823990" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, digenic</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_216941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyskeratosis congenita, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epithelial recurrent erosion dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial congenital nasolacrimal duct obstruction</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_220887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary mucoepithelial dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperostosis cranialis interna</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372107" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratitis fugax hereditaria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis pilaris atrophicans</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358378" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasopalpebral lipoma-coloboma syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior polymorphous corneal dystrophy 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sarcoidosis, susceptibility to, 1</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/36124825">Letter to the editor regarding the article: "Lacrimal gland botulinum toxin injection for epiphora management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson C,
|
||
Swan RT,
|
||
Hill R</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2023 Aug;42(4):468-469.
|
||
Epub 2022 Sep 20
|
||
doi: 10.1080/01676830.2022.2126502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36124825" target="_blank">36124825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2027702">Nasolacrimal injuries. Evaluation and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Osguthorpe JD,
|
||
Hoang G</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
1991 Feb;24(1):59-78.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2027702" target="_blank">2027702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7123615">Epiphora: diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wobig JL</span><br />
|
||
<span class="medgenPMjournal">Trans New Orleans Acad Ophthalmol</span>
|
||
1982;30:115-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7123615" target="_blank">7123615</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22epiphora%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 (139)</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/34237206">Etiology of Epiphora.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee JM,
|
||
Baek JS</span><br />
|
||
<span class="medgenPMjournal">Korean J Ophthalmol</span>
|
||
2021 Oct;35(5):349-354.
|
||
Epub 2021 Jul 8
|
||
doi: 10.3341/kjo.2021.0069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34237206" target="_blank">34237206</a><a href="/pmc/articles/PMC8521332" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30170698">Management of Long-Standing Flaccid Facial Palsy: Periocular Considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homer N,
|
||
Fay A</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2018 Dec;51(6):1107-1118.
|
||
Epub 2018 Aug 28
|
||
doi: 10.1016/j.otc.2018.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30170698" target="_blank">30170698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12733164">Endonasal endoscopic dacryocystorhinostomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krishnan G,
|
||
Prepageran N,
|
||
Muthu K</span><br />
|
||
<span class="medgenPMjournal">Med J Malaysia</span>
|
||
2002 Dec;57(4):404-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12733164" target="_blank">12733164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11148702">Advances in lacrimal surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duffy MT</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2000 Oct;11(5):352-6.
|
||
doi: 10.1097/00055735-200010000-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11148702" target="_blank">11148702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10150821">Lacrimal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wesley RE</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
1994 Oct;5(5):78-83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10150821" target="_blank">10150821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epiphora%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 (1103)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35030150">Orbital Ependymoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsimchi IM,
|
||
Malik AI,
|
||
Takashima M,
|
||
Lee AG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2022 Mar-Apr 01;38(2):e51-e54.
|
||
doi: 10.1097/IOP.0000000000002095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35030150" target="_blank">35030150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33962923">Mascara-induced nasolacrimal duct obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scollo P,
|
||
Davies R,
|
||
O'Donovan D,
|
||
Rene C</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 May 7;14(5)
|
||
doi: 10.1136/bcr-2020-240942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33962923" target="_blank">33962923</a><a href="/pmc/articles/PMC8108678" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24852150">The lacrimal system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Örge FH,
|
||
Boente CS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2014 Jun;61(3):529-39.
|
||
doi: 10.1016/j.pcl.2014.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24852150" target="_blank">24852150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23147256">Epiphora.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swampillai AJ,
|
||
McMullan TF</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2012 Nov;73(11):C162-5.
|
||
doi: 10.12968/hmed.2012.73.sup11.c162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23147256" target="_blank">23147256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10150821">Lacrimal disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wesley RE</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
1994 Oct;5(5):78-83.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10150821" target="_blank">10150821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epiphora%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 (822)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30730432">Meningoencephalitis Following Endoscopic Dacryocystorhinostomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheong TZ,
|
||
Davies RP</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2019 Mar/Apr;35(2):e47-e49.
|
||
doi: 10.1097/IOP.0000000000001324.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30730432" target="_blank">30730432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29994851">Botulinum toxin injection and tear production.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsuhaibani AH,
|
||
Eid SA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
2018 Sep;29(5):428-433.
|
||
doi: 10.1097/ICU.0000000000000506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29994851" target="_blank">29994851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907632">Effects of tear film dynamics on quality of vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koh S,
|
||
Tung CI,
|
||
Inoue Y,
|
||
Jhanji V</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2018 Dec;102(12):1615-1620.
|
||
Epub 2018 Jun 15
|
||
doi: 10.1136/bjophthalmol-2018-312333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907632" target="_blank">29907632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23306578">Endoscopic dacryocystorhinostomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roithmann R,
|
||
Burman T,
|
||
Wormald PJ</span><br />
|
||
<span class="medgenPMjournal">Braz J Otorhinolaryngol</span>
|
||
2012 Dec;78(6):113-21.
|
||
doi: 10.5935/1808-8694.20120043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23306578" target="_blank">23306578</a><a href="/pmc/articles/PMC9448940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3134818">Allergic lacrimal obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wojno TH</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1988 Jul 15;106(1):48-52.
|
||
doi: 10.1016/s0002-9394(14)76387-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3134818" target="_blank">3134818</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epiphora%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 (576)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35123815">Persistent epiphora after endonasal ENT surgery: CT dacryography findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen TH,
|
||
Venturelli N,
|
||
Espinoza S,
|
||
Keller P,
|
||
Piaton JM,
|
||
Habas C</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2022 Mar;45(3):306-313.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1016/j.jfo.2021.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35123815" target="_blank">35123815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32938219">Infection After Endoscopic Dacryocystorhinostomy: Incidence and Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jafari A,
|
||
Lehmann AE,
|
||
Shen SA,
|
||
Banks CG,
|
||
Scangas GA,
|
||
Metson R</span><br />
|
||
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
|
||
2021 May;35(3):375-382.
|
||
Epub 2020 Sep 16
|
||
doi: 10.1177/1945892420958905.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32938219" target="_blank">32938219</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27533513">Dacryolithiasis: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mishra K,
|
||
Hu KY,
|
||
Kamal S,
|
||
Andron A,
|
||
Della Rocca RC,
|
||
Ali MJ,
|
||
Nair AG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2017 Mar/Apr;33(2):83-89.
|
||
doi: 10.1097/IOP.0000000000000769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27533513" target="_blank">27533513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20551851">Inferior flap anastomosis in external dacryocystorhinostomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdoğan G,
|
||
Unlü C,
|
||
Vural ET,
|
||
Aykut A,
|
||
Bayramlar H</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2010 Jul-Aug;26(4):277-80.
|
||
doi: 10.1097/IOP.0b013e3181c3252c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20551851" target="_blank">20551851</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8869979">Holmium laser canaliculoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dutton JJ,
|
||
Holck DE</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
1996 Sep;12(3):211-7.
|
||
doi: 10.1097/00002341-199609000-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8869979" target="_blank">8869979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epiphora%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 (509)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35123815">Persistent epiphora after endonasal ENT surgery: CT dacryography findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen TH,
|
||
Venturelli N,
|
||
Espinoza S,
|
||
Keller P,
|
||
Piaton JM,
|
||
Habas C</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2022 Mar;45(3):306-313.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1016/j.jfo.2021.12.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35123815" target="_blank">35123815</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35102761">Assessment of Lacrijet monocanalicular intubation for congenital nasolacrimal duct obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamed Azzam S,
|
||
Hartstein M,
|
||
Dolmetsch A,
|
||
Mukari A</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2022 Nov;32(6):3340-3345.
|
||
Epub 2022 Feb 1
|
||
doi: 10.1177/11206721221076941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35102761" target="_blank">35102761</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32433131">The Application of a Venous Catheter for the Surgical Treatment of Punctal Occlusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meduri A,
|
||
Inferrera L,
|
||
Tumminello G,
|
||
Delia G,
|
||
Cicciù M,
|
||
Aragona P</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2020 Sep;31(6):1829-1830.
|
||
doi: 10.1097/SCS.0000000000006536.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32433131" target="_blank">32433131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29573222">Concise Review: Altered Versus Unaltered Amniotic Membrane as a Substrate for Limbal Epithelial Cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Utheim TP,
|
||
Aass Utheim Ø,
|
||
Salvanos P,
|
||
Jackson CJ,
|
||
Schrader S,
|
||
Geerling G,
|
||
Sehic A</span><br />
|
||
<span class="medgenPMjournal">Stem Cells Transl Med</span>
|
||
2018 May;7(5):415-427.
|
||
Epub 2018 Mar 23
|
||
doi: 10.1002/sctm.17-0257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29573222" target="_blank">29573222</a><a href="/pmc/articles/PMC5905228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17182405">Complications of blepharoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morax S,
|
||
Touitou V</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2006 Dec;25(4):303-18.
|
||
doi: 10.1080/01676830600985841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17182405" target="_blank">17182405</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epiphora%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 (415)</a></div></div>
|
||
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|
||
|
||
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|
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<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>
|
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36113103">Efficacy of Hyaluronic Acid in Endoscopic Dacryocystorhinostomy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Wang J,
|
||
Sun C</span><br />
|
||
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
|
||
2023 Jan;37(1):102-109.
|
||
Epub 2022 Sep 13
|
||
doi: 10.1177/19458924221126356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36113103" target="_blank">36113103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34763068">Ocular manifestations in COVID-19 patients: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhong Y,
|
||
Wang K,
|
||
Zhu Y,
|
||
Lyu D,
|
||
Yu Y,
|
||
Li S,
|
||
Yao K</span><br />
|
||
<span class="medgenPMjournal">Travel Med Infect Dis</span>
|
||
2021 Nov-Dec;44:102191.
|
||
Epub 2021 Nov 8
|
||
doi: 10.1016/j.tmaid.2021.102191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34763068" target="_blank">34763068</a><a href="/pmc/articles/PMC8574127" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703027">Impact of Post-Surgical Therapies on Endoscopic and External Dacryocystorhinostomy: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinciguerra A,
|
||
Nonis A,
|
||
Resti AG,
|
||
Bussi M,
|
||
Trimarchi M</span><br />
|
||
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
|
||
2020 Nov;34(6):846-856.
|
||
Epub 2020 Jul 23
|
||
doi: 10.1177/1945892420945218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703027" target="_blank">32703027</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28468171">Complications of Nasal Bone Fractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hwang K,
|
||
Yeom SH,
|
||
Hwang SH</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2017 May;28(3):803-805.
|
||
doi: 10.1097/SCS.0000000000003482.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28468171" target="_blank">28468171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25936919">The outcomes of endoscopic dacryocystorhinostomy in children: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gioacchini FM,
|
||
Alicandri-Ciufelli M,
|
||
Kaleci S,
|
||
Re M</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2015 Jul;79(7):947-52.
|
||
Epub 2015 Apr 23
|
||
doi: 10.1016/j.ijporl.2015.04.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25936919" target="_blank">25936919</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epiphora%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 (27)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0152227%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
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<li><a href="/gtr/tests?term=C0152227%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0152227%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22epiphora%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Epiphora%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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