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<!--
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UID=1696661
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ConceptID=C5139362
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aplasia of the olfactory bulb</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1696661</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.">C5139362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Aplastic olfactory bulb; Olfactory bulb aplasia</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0032466">HP:0032466</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">Lack of formation (congenital absence) of the olfactory bulb. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="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">Aplasia of the olfactory bulb</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1388809" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the olfactory bulb">Abnormal morphology of the olfactory bulb</a></span><ul><li><span class="matched_ds">Aplasia of the olfactory bulb</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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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>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_289648"><div><strong>Hypogonadotropic hypogonadism 2 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>289648</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.">C1563720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/289648">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340946"><div><strong>Visceral neuropathy, familial, 1, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340946</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.">C1855733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021). Genetic Heterogeneity of Familial Visceral Neuropathy Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340946">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350933"><div><strong>Acromelic frontonasal dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350933</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.">C1863616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350933">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390740"><div><strong>Endocrine-cerebro-osteodysplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390740</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.">C2675227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390740">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763392"><div><strong>Hypogonadotropic hypogonadism 3 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763392</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.">C3550478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763392">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_765257"><div><strong>Hypogonadotropic hypogonadism 4 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765257</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.">C3552343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766935"><div><strong>Hypogonadotropic hypogonadism 16 with or without anosmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766935</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.">C3554021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766935">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_901479"><div><strong>Short-rib thoracic dysplasia 14 with polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>901479</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.">C4225286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/901479">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromelic frontonasal dysostosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endocrine-cerebro-osteodysplasia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 16 with or without anosmia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_289648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 2 with or without anosmia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 3 with or without anosmia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_765257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypogonadotropic hypogonadism 4 with or without anosmia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_901479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 14 with polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340946" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visceral neuropathy, familial, 1, autosomal recessive</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29178447">Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Legendre M,
|
||
Abadie V,
|
||
Attié-Bitach T,
|
||
Philip N,
|
||
Busa T,
|
||
Bonneau D,
|
||
Colin E,
|
||
Dollfus H,
|
||
Lacombe D,
|
||
Toutain A,
|
||
Blesson S,
|
||
Julia S,
|
||
Martin-Coignard D,
|
||
Geneviève D,
|
||
Leheup B,
|
||
Odent S,
|
||
Jouk PS,
|
||
Mercier S,
|
||
Faivre L,
|
||
Vincent-Delorme C,
|
||
Francannet C,
|
||
Naudion S,
|
||
Mathieu-Dramard M,
|
||
Delrue MA,
|
||
Goldenberg A,
|
||
Héron D,
|
||
Parent P,
|
||
Touraine R,
|
||
Layet V,
|
||
Sanlaville D,
|
||
Quélin C,
|
||
Moutton S,
|
||
Fradin M,
|
||
Jacquette A,
|
||
Sigaudy S,
|
||
Pinson L,
|
||
Sarda P,
|
||
Guerrot AM,
|
||
Rossi M,
|
||
Masurel-Paulet A,
|
||
El Chehadeh S,
|
||
Piguel X,
|
||
Rodriguez-Ballesteros M,
|
||
Ragot S,
|
||
Lyonnet S,
|
||
Bilan F,
|
||
Gilbert-Dussardier B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2017 Dec;175(4):417-430.
|
||
Epub 2017 Nov 27
|
||
doi: 10.1002/ajmg.c.31591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29178447" target="_blank">29178447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24296236">Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castañeyra-Perdomo A,
|
||
Castañeyra-Ruiz L,
|
||
González-Marrero I,
|
||
Castañeyra-Ruiz A,
|
||
Gonzalez-Toledo JM,
|
||
Castañeyra-Ruiz M,
|
||
Carmona-Calero EM</span><br />
|
||
<span class="medgenPMjournal">Med Hypotheses</span>
|
||
2014 Jan;82(1):74-6.
|
||
Epub 2013 Nov 16
|
||
doi: 10.1016/j.mehy.2013.11.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24296236" target="_blank">24296236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20389090">Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarfati J,
|
||
Dodé C,
|
||
Young J</span><br />
|
||
<span class="medgenPMjournal">Front Horm Res</span>
|
||
2010;39:121-132.
|
||
Epub 2010 Apr 8
|
||
doi: 10.1159/000312698.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20389090" target="_blank">20389090</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aplasia%20of%20the%20olfactory%20bulb)%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 (4)</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/37087810">Reduced olfactory bulb volume and olfactory sulcus depth in obsessive compulsive disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kapici OB,
|
||
Kapici Y,
|
||
Tekin A</span><br />
|
||
<span class="medgenPMjournal">Psychiatry Res Neuroimaging</span>
|
||
2023 Jul;332:111644.
|
||
Epub 2023 Apr 10
|
||
doi: 10.1016/j.pscychresns.2023.111644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37087810" target="_blank">37087810</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36187095">The diagnostic value of the olfactory evaluation for congenital hypogonadotropic hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu B,
|
||
Chen K,
|
||
Mao J,
|
||
Hou B,
|
||
You H,
|
||
Wang X,
|
||
Nie M,
|
||
Huang Q,
|
||
Zhang R,
|
||
Zhu Y,
|
||
Sun B,
|
||
Feng F,
|
||
Zhou W,
|
||
Wu X</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:909623.
|
||
Epub 2022 Sep 16
|
||
doi: 10.3389/fendo.2022.909623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36187095" target="_blank">36187095</a><a href="/pmc/articles/PMC9523726" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30264731">Retronasal Olfaction Test Methods: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Özay H,
|
||
Çakır A,
|
||
Ecevit MC</span><br />
|
||
<span class="medgenPMjournal">Balkan Med J</span>
|
||
2019 Jan 1;36(1):49-59.
|
||
Epub 2018 Sep 28
|
||
doi: 10.4274/balkanmedj.2018.0052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30264731" target="_blank">30264731</a><a href="/pmc/articles/PMC6335936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27863011">Congenital anosmia: our experience of eleven patients with aplasia or hypoplasia of the olfactory tract.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Powell J,
|
||
Zammit-Maempel I,
|
||
Carrie S</span><br />
|
||
<span class="medgenPMjournal">Clin Otolaryngol</span>
|
||
2017 Oct;42(5):1038-1040.
|
||
Epub 2016 Nov 27
|
||
doi: 10.1111/coa.12795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27863011" target="_blank">27863011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18783101">Isolated olfactory nerve agenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carswell AJ,
|
||
Whinney D,
|
||
Hollings N,
|
||
Flanagan P</span><br />
|
||
<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
|
||
2008 Aug;69(8):474.
|
||
doi: 10.12968/hmed.2008.69.8.30747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18783101" target="_blank">18783101</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20olfactory%20bulb%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 (54)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36187095">The diagnostic value of the olfactory evaluation for congenital hypogonadotropic hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu B,
|
||
Chen K,
|
||
Mao J,
|
||
Hou B,
|
||
You H,
|
||
Wang X,
|
||
Nie M,
|
||
Huang Q,
|
||
Zhang R,
|
||
Zhu Y,
|
||
Sun B,
|
||
Feng F,
|
||
Zhou W,
|
||
Wu X</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:909623.
|
||
Epub 2022 Sep 16
|
||
doi: 10.3389/fendo.2022.909623.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36187095" target="_blank">36187095</a><a href="/pmc/articles/PMC9523726" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33270103">Olfactory Disorder With No Menarche in a Teenager.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakurai R,
|
||
Mori E,
|
||
Kojima H</span><br />
|
||
<span class="medgenPMjournal">JAMA Otolaryngol Head Neck Surg</span>
|
||
2021 Feb 1;147(2):207-208.
|
||
doi: 10.1001/jamaoto.2020.4575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33270103" target="_blank">33270103</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25968962">Olfaction and Aging: A Mini-Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Attems J,
|
||
Walker L,
|
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<div class="nl"><a target="_blank" href="/pubmed/35318656">Neuroradiological Basis of COVID-19 Olfactory Dysfunction: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan CJ,
|
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Tan BKJ,
|
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Tan XY,
|
||
Liu HT,
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||
Teo CB,
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||
See A,
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Xu S,
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Toh ST,
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Kheok SW,
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Charn TC,
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Teo NWY</span><br />
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<span class="medgenPMjournal">Laryngoscope</span>
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2022 Jun;132(6):1260-1274.
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Epub 2022 Mar 22
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doi: 10.1002/lary.30078.
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<span class="bold">PMID: </span><a href="/pubmed/35318656" target="_blank">35318656</a><a href="/pmc/articles/PMC9088641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20olfactory%20bulb%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 (73)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35318656">Neuroradiological Basis of COVID-19 Olfactory Dysfunction: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan CJ,
|
||
Tan BKJ,
|
||
Tan XY,
|
||
Liu HT,
|
||
Teo CB,
|
||
See A,
|
||
Xu S,
|
||
Toh ST,
|
||
Kheok SW,
|
||
Charn TC,
|
||
Teo NWY</span><br />
|
||
<span class="medgenPMjournal">Laryngoscope</span>
|
||
2022 Jun;132(6):1260-1274.
|
||
Epub 2022 Mar 22
|
||
doi: 10.1002/lary.30078.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35318656" target="_blank">35318656</a><a href="/pmc/articles/PMC9088641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34269530">Neuroimaging Findings in Patients with COVID-19: A Systematic Review and Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kim PH,
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Kim M,
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Suh CH,
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Chung SR,
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Park JE,
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Kim SC,
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Choi YJ,
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Lee JH,
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Kim HS,
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Baek JH,
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Choi CG,
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Kim SJ</span><br />
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<span class="medgenPMjournal">Korean J Radiol</span>
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2021 Nov;22(11):1875-1885.
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Epub 2021 Jul 1
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doi: 10.3348/kjr.2021.0127.
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||
<span class="bold">PMID: </span><a href="/pubmed/34269530" target="_blank">34269530</a><a href="/pmc/articles/PMC8546134" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30264731">Retronasal Olfaction Test Methods: A Systematic Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Özay H,
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Çakır A,
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Ecevit MC</span><br />
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2019 Jan 1;36(1):49-59.
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<span class="bold">PMID: </span><a href="/pubmed/30264731" target="_blank">30264731</a><a href="/pmc/articles/PMC6335936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aplasia%20of%20the%20olfactory%20bulb%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 (3)</a></div></div>
|
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