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<!--
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UID=116054
|
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ConceptID=C0238300
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lacrimal duct stenosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116054</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.">C0238300</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Nasolacrimal duct stenosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Stenosis of nasolacrimal duct (231841004)</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:0007678">HP:0007678</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Narrowing of a tear duct (lacrimal duct). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Lacrimal duct stenosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871367" ref="tree=MeSH" title="MedGen record for Abnormality of the orbital region">Abnormality of the orbital region</a></span><ul><li><span class="TLline"><a href="/medgen/1670962" ref="tree=MeSH" title="MedGen record for Abnormality of the ocular adnexa">Abnormality of the ocular adnexa</a></span><ul><li><span class="TLline"><a href="/medgen/893067" ref="tree=MeSH" title="MedGen record for Abnormal ocular adnexa morphology">Abnormal ocular adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871343" ref="tree=MeSH" title="MedGen record for Abnormal nasolacrimal system morphology">Abnormal nasolacrimal system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/346938" ref="tree=MeSH" title="MedGen record for Abnormal lacrimal duct morphology">Abnormal lacrimal duct morphology</a></span><ul><li><span class="TLline"><a href="/medgen/226915" ref="tree=MeSH" title="MedGen record for Nasolacrimal duct obstruction">Nasolacrimal duct obstruction</a></span><ul><li><span class="matched_ds">Lacrimal duct stenosis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
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<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_66078"><div><strong>Treacher Collins syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66078</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.">C0242387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rotated ears and atresia or stenosis of the external auditory canals. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Significant respiratory and feeding difficulties can be present in infancy. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically, intellect is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120519"><div><strong>Nager syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120519</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.">C0265245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120519">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98483"><div><strong>Lenz-Majewski hyperostosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98483</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.">C0432269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98483">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208652"><div><strong>Cholestasis-pigmentary retinopathy-cleft palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208652</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.">C0795969</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208652">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323004"><div><strong>Epidermolysis bullosa simplex 7, with nephropathy and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323004</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.">C1836823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323004">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333995"><div><strong>Branchiootic syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333995</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.">C1842124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333995">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347666"><div><strong>Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347666</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.">C1858562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347666">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442377"><div><strong>Combined immunodeficiency with faciooculoskeletal anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442377</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.">C2750068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Roifman-Chitayat syndrome (ROCHIS) is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections (summary by Sharfe et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442377">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_903767"><div><strong>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903767</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.">C4225396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/903767">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1376945"><div><strong>Noonan syndrome-like disorder with loose anagen hair 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1376945</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.">C4479577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1376945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632634"><div><strong>Branchiootorenal syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632634</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.">C4551702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645760"><div><strong>Cornelia de Lange syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645760</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.">C4551851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1711894"><div><strong>Beck-Fahrner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1711894</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.">C5394097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">TET3-related Beck-Fahrner syndrome (TET3-BEFAHRS) is a condition within the spectrum of mendelian disorders of the epigenetic machinery (MDEMs) or chromatinopathies. Clinical features typically include intellectual disability / developmental delay ranging from mild to severe affecting both motor and language skills. Most affected individuals are verbal and ambulatory, with most walking by age 15-36 months. Hypotonia in infancy and childhood can exacerbate motor and expressive speech delay and, in some cases, cause feeding difficulties that require nasogastric or gastrostomy tube feeding. Some affected individuals display movement disorders. About one third of affected individuals have epilepsy. Other neurobehavioral features can include autism, anxiety, and attention-deficit/hyperactivity disorder. Strabismus and refractive errors are found in about half of affected individuals. Both conductive and sensorineural hearing loss have been observed. Approximately half of individuals exhibit typical growth and half exhibit growth abnormalities, with overgrowth being more common than undergrowth and macrocephaly being the most common manifestation of altered growth. While many affected individuals have dysmorphic features, these are typically nonspecific. Congenital heart defects, brain malformations, and genitourinary anomalies are less common findings.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1711894">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782278"><div><strong>Otofaciocervical syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782278</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.">C5442121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections (Paganini et al., 2017; Yamazaki et al., 2020). For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (166780).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782278">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1807988"><div><strong>Noonan syndrome 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1807988</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.">C5676916</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. Patients exhibit developmental delay, impaired intellectual development, and short stature, as well as distinctive dysmorphic features including bitemporal narrowing, hypertelorism, low-set posteriorly rotated ears, prominent nasal bridge, low posterior hairline with a short webbed neck, and pectus excavatum (Motta et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1807988">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1711894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beck-Fahrner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchiootic syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchiootorenal syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208652" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholestasis-pigmentary retinopathy-cleft palate syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442377" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency with faciooculoskeletal anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323004" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 7, with nephropathy and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lenz-Majewski hyperostosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120519" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nager syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1807988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1376945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome-like disorder with loose anagen hair 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782278" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otofaciocervical syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Treacher Collins syndrome</a></div></span></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<div class="nl"><a target="_blank" href="/pubmed/30531801">Clinical features and treatment outcomes of patients with tearing after chemotherapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park J,
|
||
Kim J,
|
||
Baek S</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2019 May;33(5):746-753.
|
||
Epub 2018 Dec 10
|
||
doi: 10.1038/s41433-018-0305-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30531801" target="_blank">30531801</a><a href="/pmc/articles/PMC6707285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27429222">Evaluation and Management of Chemotherapy-Induced Epiphora, Punctal and Canalicular Stenosis, and Nasolacrimal Duct Obstruction.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mansur C,
|
||
Pfeiffer ML,
|
||
Esmaeli B</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2017 Jan/Feb;33(1):9-12.
|
||
doi: 10.1097/IOP.0000000000000745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27429222" target="_blank">27429222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3184333">The treatment of dacryostenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frankel CA</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1988 Nov 11;260(18):2666.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3184333" target="_blank">3184333</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(lacrimal%20duct%20stenosis)%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 (38)</a></div></div>
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</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/38940962">Prospective, randomised clinical trial on the necessity of using a silicone intubarium in the context of endonasal-endoscopic dacryocystorhinostomy (EN-DCR) in patients with postsaccal lacrimal duct stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahner L,
|
||
Zebralla V,
|
||
Dietz A,
|
||
Otto M,
|
||
Pirlich M</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2024 Jun 28;44(1):293.
|
||
doi: 10.1007/s10792-024-03205-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38940962" target="_blank">38940962</a><a href="/pmc/articles/PMC11213761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33888431">The role of the rhinostomy ostium size on functional success in dacryocystorhinostomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Torun MT,
|
||
Yılmaz E</span><br />
|
||
<span class="medgenPMjournal">Braz J Otorhinolaryngol</span>
|
||
2022 Nov-Dec;88 Suppl 1(Suppl 1):S57-S62.
|
||
Epub 2021 Apr 10
|
||
doi: 10.1016/j.bjorl.2021.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33888431" target="_blank">33888431</a><a href="/pmc/articles/PMC9734259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27473389">Visual outcomes and late complications in paediatric orbital rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eade E,
|
||
Tumuluri K,
|
||
Do H,
|
||
Rowe N,
|
||
Smith J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2017 Mar;45(2):168-173.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1111/ceo.12809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27473389" target="_blank">27473389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24912091">Bacterial spectrum and antimicrobial susceptibility patterns in acquired and connatal lacrimal duct stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prokosch V,
|
||
Prokosch JE,
|
||
Promesberger J,
|
||
Idelevich EA,
|
||
Böhm MR,
|
||
Thanos S,
|
||
Stupp T</span><br />
|
||
<span class="medgenPMjournal">Curr Eye Res</span>
|
||
2014 Nov;39(11):1069-75.
|
||
Epub 2014 Jun 9
|
||
doi: 10.3109/02713683.2014.898312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24912091" target="_blank">24912091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11824881">Lacrimal duct stenosis and other ocular toxicity associated with adjuvant cyclophosphamide, methotrexate and 5-fluorouracil combination chemotherapy for early stage breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevens A,
|
||
Spooner D</span><br />
|
||
<span class="medgenPMjournal">Clin Oncol (R Coll Radiol)</span>
|
||
2001;13(6):438-40.
|
||
doi: 10.1053/clon.2001.9308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11824881" target="_blank">11824881</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lacrimal%20duct%20stenosis%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38940962">Prospective, randomised clinical trial on the necessity of using a silicone intubarium in the context of endonasal-endoscopic dacryocystorhinostomy (EN-DCR) in patients with postsaccal lacrimal duct stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahner L,
|
||
Zebralla V,
|
||
Dietz A,
|
||
Otto M,
|
||
Pirlich M</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2024 Jun 28;44(1):293.
|
||
doi: 10.1007/s10792-024-03205-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38940962" target="_blank">38940962</a><a href="/pmc/articles/PMC11213761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32067224">Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathorne SW,
|
||
Ravn P,
|
||
Hansen D,
|
||
Beck-Nielsen SS,
|
||
Gjørup H,
|
||
Sørensen KP,
|
||
Fagerberg CR</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 May;97(5):779-784.
|
||
Epub 2020 Feb 24
|
||
doi: 10.1111/cge.13725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32067224" target="_blank">32067224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22351823">Lacrimal canalicular duct scarring in patients with lichen planus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Webber NK,
|
||
Setterfield JF,
|
||
Lewis FM,
|
||
Neill SM</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2012 Feb;148(2):224-7.
|
||
doi: 10.1001/archdermatol.2011.580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22351823" target="_blank">22351823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20436778">Modern lacrimal duct surgery from the ophthalmological perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer-Rüsenberg HW,
|
||
Emmerich KH</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2010 Apr;107(14):254-8.
|
||
Epub 2010 Apr 9
|
||
doi: 10.3238/arztebl.2010.0254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20436778" target="_blank">20436778</a><a href="/pmc/articles/PMC2861768" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16114047">Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slavotinek AM,
|
||
Tanaka J,
|
||
Winder A,
|
||
Vargervik K,
|
||
Haggstrom A,
|
||
Bamshad M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Oct 1;138A(2):146-9.
|
||
doi: 10.1002/ajmg.a.30900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16114047" target="_blank">16114047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lacrimal%20duct%20stenosis%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 (12)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38940962">Prospective, randomised clinical trial on the necessity of using a silicone intubarium in the context of endonasal-endoscopic dacryocystorhinostomy (EN-DCR) in patients with postsaccal lacrimal duct stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahner L,
|
||
Zebralla V,
|
||
Dietz A,
|
||
Otto M,
|
||
Pirlich M</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2024 Jun 28;44(1):293.
|
||
doi: 10.1007/s10792-024-03205-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38940962" target="_blank">38940962</a><a href="/pmc/articles/PMC11213761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27473389">Visual outcomes and late complications in paediatric orbital rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eade E,
|
||
Tumuluri K,
|
||
Do H,
|
||
Rowe N,
|
||
Smith J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2017 Mar;45(2):168-173.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1111/ceo.12809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27473389" target="_blank">27473389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24912091">Bacterial spectrum and antimicrobial susceptibility patterns in acquired and connatal lacrimal duct stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prokosch V,
|
||
Prokosch JE,
|
||
Promesberger J,
|
||
Idelevich EA,
|
||
Böhm MR,
|
||
Thanos S,
|
||
Stupp T</span><br />
|
||
<span class="medgenPMjournal">Curr Eye Res</span>
|
||
2014 Nov;39(11):1069-75.
|
||
Epub 2014 Jun 9
|
||
doi: 10.3109/02713683.2014.898312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24912091" target="_blank">24912091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11824881">Lacrimal duct stenosis and other ocular toxicity associated with adjuvant cyclophosphamide, methotrexate and 5-fluorouracil combination chemotherapy for early stage breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevens A,
|
||
Spooner D</span><br />
|
||
<span class="medgenPMjournal">Clin Oncol (R Coll Radiol)</span>
|
||
2001;13(6):438-40.
|
||
doi: 10.1053/clon.2001.9308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11824881" target="_blank">11824881</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7369306">Ocular Aeromonas hydrophila.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith JA</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1980 Mar;89(3):449-51.
|
||
doi: 10.1016/0002-9394(80)90020-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7369306" target="_blank">7369306</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lacrimal%20duct%20stenosis%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38940962">Prospective, randomised clinical trial on the necessity of using a silicone intubarium in the context of endonasal-endoscopic dacryocystorhinostomy (EN-DCR) in patients with postsaccal lacrimal duct stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bahner L,
|
||
Zebralla V,
|
||
Dietz A,
|
||
Otto M,
|
||
Pirlich M</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2024 Jun 28;44(1):293.
|
||
doi: 10.1007/s10792-024-03205-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38940962" target="_blank">38940962</a><a href="/pmc/articles/PMC11213761" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27473389">Visual outcomes and late complications in paediatric orbital rhabdomyosarcoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eade E,
|
||
Tumuluri K,
|
||
Do H,
|
||
Rowe N,
|
||
Smith J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2017 Mar;45(2):168-173.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1111/ceo.12809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27473389" target="_blank">27473389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25707956">Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heeley J,
|
||
Shinawi M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2015 Apr;167A(4):816-20.
|
||
Epub 2015 Feb 23
|
||
doi: 10.1002/ajmg.a.36889.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25707956" target="_blank">25707956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23392314">Self-retaining bicanaliculus stents as an adjunct to 3-snip punctoplasty in management of upper lacrimal duct stenosis: a comparison to standard 3-snip procedure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chalvatzis NT,
|
||
Tzamalis AK,
|
||
Mavrikakis I,
|
||
Tsinopoulos I,
|
||
Dimitrakos S</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2013 Mar-Apr;29(2):123-7.
|
||
doi: 10.1097/IOP.0b013e31827f5a10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23392314" target="_blank">23392314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16114047">Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Slavotinek AM,
|
||
Tanaka J,
|
||
Winder A,
|
||
Vargervik K,
|
||
Haggstrom A,
|
||
Bamshad M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Oct 1;138A(2):146-9.
|
||
doi: 10.1002/ajmg.a.30900.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16114047" target="_blank">16114047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lacrimal%20duct%20stenosis%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28957561">Clinical characteristics of inflammatory ocular disease in anti-neutrophil cytoplasmic antibody associated vasculitis: a retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ungprasert P,
|
||
Crowson CS,
|
||
Cartin-Ceba R,
|
||
Garrity JA,
|
||
Smith WM,
|
||
Specks U,
|
||
Matteson EL,
|
||
Makol A</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2017 Oct 1;56(10):1763-1770.
|
||
doi: 10.1093/rheumatology/kex261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28957561" target="_blank">28957561</a><a href="/pmc/articles/PMC6251565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24912091">Bacterial spectrum and antimicrobial susceptibility patterns in acquired and connatal lacrimal duct stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prokosch V,
|
||
Prokosch JE,
|
||
Promesberger J,
|
||
Idelevich EA,
|
||
Böhm MR,
|
||
Thanos S,
|
||
Stupp T</span><br />
|
||
<span class="medgenPMjournal">Curr Eye Res</span>
|
||
2014 Nov;39(11):1069-75.
|
||
Epub 2014 Jun 9
|
||
doi: 10.3109/02713683.2014.898312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24912091" target="_blank">24912091</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23392314">Self-retaining bicanaliculus stents as an adjunct to 3-snip punctoplasty in management of upper lacrimal duct stenosis: a comparison to standard 3-snip procedure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chalvatzis NT,
|
||
Tzamalis AK,
|
||
Mavrikakis I,
|
||
Tsinopoulos I,
|
||
Dimitrakos S</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Plast Reconstr Surg</span>
|
||
2013 Mar-Apr;29(2):123-7.
|
||
doi: 10.1097/IOP.0b013e31827f5a10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23392314" target="_blank">23392314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22351823">Lacrimal canalicular duct scarring in patients with lichen planus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Webber NK,
|
||
Setterfield JF,
|
||
Lewis FM,
|
||
Neill SM</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol</span>
|
||
2012 Feb;148(2):224-7.
|
||
doi: 10.1001/archdermatol.2011.580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22351823" target="_blank">22351823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6964893">The earpits-deafness syndrome. Clinical and genetic aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cremers CW,
|
||
Fikkers-Van Noord M</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
1980 Nov;2(4):309-22.
|
||
doi: 10.1016/0165-5876(80)90036-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6964893" target="_blank">6964893</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lacrimal%20duct%20stenosis%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 (10)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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