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<meta name="keywords" content="3-m syndrome, 3-msbn, 3m syndrome, C1848862, disease or syndrome, dolichospondylic dysplasia, dwarfism with tall vertebrae, gloomy face syndrome, gloomy face syndrome yakut short stature syndrome, included, le merrer syndrome, miller-mckusick-malvaux syndrome, miller-mckusick-malvaux-syndrome, miller-mckusick-malvaux-syndrome (3m syndrome), three m syndrome, three-m slender-boned nanism, yakut short stature syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="3-M syndrome is characterized by severe pre- and postnatal growth deficiency (final height five standard deviations below the mean), characteristic facies (relative macrocephaly, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, thick vermilion of the upper and low lips, and pointed chin), and normal intelligence. Additional features of 3-M syndrome include short, broad neck, prominent trapezii, pectus carinatum/excavatum, short thorax, square shoulders, winged scapulae, thoracic kyphoscoliosis, hyperlordosis, spina bifida occulta, clinodactyly of the fifth fingers, generalized or distal joint hypermobility, dislocated hips, prominent heels, and pes planus. Males with 3-M syndrome can have hypogonadism and occasionally hypospadias." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=336440
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ConceptID=C1848862
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">3-M syndrome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336440</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.">C1848862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>3-MSBN; 3M SYNDROME; Three M syndrome; Three-M slender-boned nanism</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>3-M syndrome (702342007); 3M syndrome (702342007); Le Merrer syndrome (702342007); Miller-McKusick-Malvaux syndrome (702342007); Dolichospondylic dysplasia (702342007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/83987">CCDC8</a>, <a target="_blank" href="/gene/23363">OBSL1</a>, <a target="_blank" href="/gene/9820">CUL7</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007477" target="_blank">MONDO:0007477</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/273750" target="_blank">273750</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS273750" target="_blank">PS273750</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2616">ORPHA2616</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_101">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1481" target="_blank">3-M Syndrome</a></div><div>3-M syndrome is characterized by severe pre- and postnatal growth deficiency (final height five standard deviations below the mean), characteristic facies (relative macrocephaly, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, thick vermilion of the upper and low lips, and pointed chin), and normal intelligence. Additional features of 3-M syndrome include short, broad neck, prominent trapezii, pectus carinatum/excavatum, short thorax, square shoulders, winged scapulae, thoracic kyphoscoliosis, hyperlordosis, spina bifida occulta, clinodactyly of the fifth fingers, generalized or distal joint hypermobility, dislocated hips, prominent heels, and pes planus. Males with 3-M syndrome can have hypogonadism and occasionally hypospadias. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Summary" target="NBK1481">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Diagnosis" target="NBK1481">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Clinical_Characteristics" target="NBK1481">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Genetically_Related_Allelic_Disor" target="NBK1481">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Differential_Diagnosis" target="NBK1481">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Management" target="NBK1481">Management</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Genetic_Counseling" target="NBK1481">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Resources" target="NBK1481">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Molecular_Genetics" target="NBK1481">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.Chapter_Notes" target="NBK1481">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1481#gr_3ms.References" target="NBK1481">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Rhoda Akilapa | Melita Irving | Muriel Holder-Espinasse <a href="/books/NBK1481" target="NBK1481" title="NCBI Bookshelf: 3-M Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus (summary by Badina et al., 2011).
|
||
Genetic Heterogeneity of 3M Syndrome
|
||
Also see 3M syndrome-2 (3M2; 612921), caused by mutation in the OBSL1 gene (610991) on chromosome 2q35, and 3M syndrome-3 (3M3; 614205), caused by mutation in the CCDC8 gene (614145) on chromosome 19q13. <a target="_blank" href="http://www.omim.org/entry/273750">http://www.omim.org/entry/273750</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.<br /><br />Individuals with 3-M syndrome grow extremely slowly before birth, and this slow growth continues throughout childhood and adolescence. They have low birth weight and length and remain much smaller than others in their family, growing to an adult height of approximately 4 feet to 4 feet 6 inches (120 centimeters to 130 centimeters). In some affected individuals, the head is normal-sized but looks disproportionately large in comparison with the body. In other people with this disorder, the head has an unusually long and narrow shape (dolichocephaly). Intelligence is unaffected by 3-M syndrome, and life expectancy is generally normal.<br /><br />In addition to short stature, people with 3-M syndrome have a triangle-shaped face with a broad, prominent forehead (frontal bossing) and a pointed chin; the middle of the face is less prominent (hypoplastic midface). Other common features include large ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the nose and mouth (philtrum), a prominent mouth, and full lips.<br /><br />Other skeletal abnormalities that often occur in this disorder include a short, broad neck and chest; prominent shoulder blades; and shoulders that slope less than usual (square shoulders). Affected individuals may have abnormal spinal curvature such as a rounded upper back that also curves to the side (kyphoscoliosis) or exaggerated curvature of the lower back (hyperlordosis). People with 3-M syndrome can also have unusual curving of the fingers (clinodactyly), short fifth (pinky) fingers, prominent heels, and loose joints. Additional skeletal abnormalities, such as unusually slender long bones in the arms and legs; tall, narrow spinal bones (vertebrae); or slightly delayed bone age may be apparent in x-ray images.<br /><br />A variant of 3-M syndrome called Yakut short stature syndrome has been identified in the isolated Yakut population in the Russian province of Siberia. In addition to having most of the physical features characteristic of 3-M syndrome, people with this form of the disorder are often born with breathing problems that can be life-threatening in infancy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/3-m-syndrome">https://medlineplus.gov/genetics/condition/3-m-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848862[DISCUI]&test_type=Clinical" ref="ncbi_uid=336440">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336440" target="_blank" href="/omim/273750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=336440">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336440" ref="ncbi_uid=336440">V</a></span></span><span class="TLline">3-M syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678312[DISCUI]&test_type=Clinical" ref="ncbi_uid=395592">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395592" target="_blank" href="/omim/273750">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=395592">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395592" ref="ncbi_uid=395592">V</a></span></span><span class="TLline"><a href="/medgen/395592" ref="tree=GTR&ncbi_uid=395592&link_uid=395592" title="View MedGen record for '3M syndrome 1'">3M syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2752041[DISCUI]&test_type=Clinical" ref="ncbi_uid=414168">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414168" target="_blank" href="/omim/610991">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=414168">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414168" ref="ncbi_uid=414168">V</a></span></span><span class="TLline"><a href="/medgen/414168" ref="tree=GTR&ncbi_uid=414168&link_uid=414168" title="View MedGen record for '3M syndrome 2'">3M syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280146[DISCUI]&test_type=Clinical" ref="ncbi_uid=481776">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481776" target="_blank" href="/omim/614145">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1481/" ref="ncbi_uid=481776">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481776" ref="ncbi_uid=481776">V</a></span></span><span class="TLline"><a href="/medgen/481776" ref="tree=GTR&ncbi_uid=481776&link_uid=481776" title="View MedGen record for '3M syndrome 3'">3M syndrome 3</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842619" ref="tree=MeSH" title="MedGen record for Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability">Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability</a></span><ul><li><span class="matched_ds">3-M syndrome</span><ul><li><span class="TLline"><a href="/medgen/395592" ref="tree=MeSH" title="MedGen record for 3M syndrome 1">3M syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/414168" ref="tree=MeSH" title="MedGen record for 3M syndrome 2">3M syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/481776" ref="tree=MeSH" title="MedGen record for 3M syndrome 3">3M syndrome 3</a></span></li></ul></li></ul></li></ul></div></div></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/39643721">Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akalın A,
|
||
Özalkak Ş,
|
||
Yıldırım R,
|
||
Karakaya AA,
|
||
Kolbaşı B,
|
||
Durmuşalioğlu EA,
|
||
Kökali F,
|
||
Ürel-Demir G,
|
||
Öz V,
|
||
Ünal E,
|
||
Atik T,
|
||
Şimşek-Kiper PÖ,
|
||
Elcioglu NH</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Dec 7;184(1):68.
|
||
doi: 10.1007/s00431-024-05855-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39643721" target="_blank">39643721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23900270">Clinical utility gene card for: 3-M syndrome - update 2013.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holder-Espinasse M,
|
||
Irving M,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Apr;22(4)
|
||
Epub 2013 Jul 31
|
||
doi: 10.1038/ejhg.2013.156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23900270" target="_blank">23900270</a><a href="/pmc/articles/PMC3953895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%223-m%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</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/39643721">Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akalın A,
|
||
Özalkak Ş,
|
||
Yıldırım R,
|
||
Karakaya AA,
|
||
Kolbaşı B,
|
||
Durmuşalioğlu EA,
|
||
Kökali F,
|
||
Ürel-Demir G,
|
||
Öz V,
|
||
Ünal E,
|
||
Atik T,
|
||
Şimşek-Kiper PÖ,
|
||
Elcioglu NH</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Dec 7;184(1):68.
|
||
doi: 10.1007/s00431-024-05855-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39643721" target="_blank">39643721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23517720">3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meazza C,
|
||
Lausch E,
|
||
Pagani S,
|
||
Bozzola E,
|
||
Calcaterra V,
|
||
Superti-Furga A,
|
||
Silengo M,
|
||
Bozzola M</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2013 Mar 21;39:21.
|
||
doi: 10.1186/1824-7288-39-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23517720" target="_blank">23517720</a><a href="/pmc/articles/PMC3608257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23457316">Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demir K,
|
||
Altıncık A,
|
||
Böber E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2013;26(1-2):147-50.
|
||
doi: 10.1515/jpem-2012-0239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23457316" target="_blank">23457316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21383554">Hip dislocation in 3-M syndrome: risk of misdiagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badina A,
|
||
Pejin Z,
|
||
Odent T,
|
||
Buzescu A,
|
||
Huber C,
|
||
Cormier-Daire V,
|
||
Glorion C,
|
||
Pannier S</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2011 Apr;20(2):114-116.
|
||
doi: 10.1097/MCD.0b013e328343f958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21383554" target="_blank">21383554</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1619640">The 3-M syndrome: risk of intracerebral aneurysm?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mueller RF,
|
||
Buckler J,
|
||
Arthur R,
|
||
Bonsor G,
|
||
Dear P,
|
||
Walters K,
|
||
Towns GM</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1992 Jun;29(6):425-7.
|
||
doi: 10.1136/jmg.29.6.425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1619640" target="_blank">1619640</a><a href="/pmc/articles/PMC1015997" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-M%20syndrome%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30622233">3-M Syndrome: A Local Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">HabibUllah H,
|
||
Al-Baradie R,
|
||
Bashir S</span><br />
|
||
<span class="medgenPMjournal">Am J Case Rep</span>
|
||
2019 Jan 9;20:36-38.
|
||
doi: 10.12659/AJCR.912736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30622233" target="_blank">30622233</a><a href="/pmc/articles/PMC6335979" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23900270">Clinical utility gene card for: 3-M syndrome - update 2013.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holder-Espinasse M,
|
||
Irving M,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Apr;22(4)
|
||
Epub 2013 Jul 31
|
||
doi: 10.1038/ejhg.2013.156.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23900270" target="_blank">23900270</a><a href="/pmc/articles/PMC3953895" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22624670">Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton PE,
|
||
Hanson D,
|
||
Magee L,
|
||
Murray PG,
|
||
Saunders E,
|
||
Abu-Amero SN,
|
||
Moore GE,
|
||
Black GC</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2012 Sep;77(3):335-42.
|
||
doi: 10.1111/j.1365-2265.2012.04428.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22624670" target="_blank">22624670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21383554">Hip dislocation in 3-M syndrome: risk of misdiagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Badina A,
|
||
Pejin Z,
|
||
Odent T,
|
||
Buzescu A,
|
||
Huber C,
|
||
Cormier-Daire V,
|
||
Glorion C,
|
||
Pannier S</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2011 Apr;20(2):114-116.
|
||
doi: 10.1097/MCD.0b013e328343f958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21383554" target="_blank">21383554</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-M%20syndrome%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 (24)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107243">The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee IK,
|
||
Lim HH,
|
||
Kim YM</span><br />
|
||
<span class="medgenPMjournal">Yonsei Med J</span>
|
||
2020 Nov;61(11):981-985.
|
||
doi: 10.3349/ymj.2020.61.11.981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107243" target="_blank">33107243</a><a href="/pmc/articles/PMC7593105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24970356">Whole exome sequencing to identify genetic causes of short stature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo MH,
|
||
Shen Y,
|
||
Walvoord EC,
|
||
Miller TC,
|
||
Moon JE,
|
||
Hirschhorn JN,
|
||
Dauber A</span><br />
|
||
<span class="medgenPMjournal">Horm Res Paediatr</span>
|
||
2014;82(1):44-52.
|
||
Epub 2014 Jun 20
|
||
doi: 10.1159/000360857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24970356" target="_blank">24970356</a><a href="/pmc/articles/PMC4130218" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23517720">3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meazza C,
|
||
Lausch E,
|
||
Pagani S,
|
||
Bozzola E,
|
||
Calcaterra V,
|
||
Superti-Furga A,
|
||
Silengo M,
|
||
Bozzola M</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2013 Mar 21;39:21.
|
||
doi: 10.1186/1824-7288-39-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23517720" target="_blank">23517720</a><a href="/pmc/articles/PMC3608257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22624670">Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clayton PE,
|
||
Hanson D,
|
||
Magee L,
|
||
Murray PG,
|
||
Saunders E,
|
||
Abu-Amero SN,
|
||
Moore GE,
|
||
Black GC</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2012 Sep;77(3):335-42.
|
||
doi: 10.1111/j.1365-2265.2012.04428.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22624670" target="_blank">22624670</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-M%20syndrome%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33107243">The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee IK,
|
||
Lim HH,
|
||
Kim YM</span><br />
|
||
<span class="medgenPMjournal">Yonsei Med J</span>
|
||
2020 Nov;61(11):981-985.
|
||
doi: 10.3349/ymj.2020.61.11.981.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33107243" target="_blank">33107243</a><a href="/pmc/articles/PMC7593105" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141654">Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu L,
|
||
Wang X,
|
||
Jin T,
|
||
Han Y,
|
||
Liu J,
|
||
Jiang M,
|
||
Yan S,
|
||
Fu X,
|
||
An B,
|
||
Huang S</span><br />
|
||
<span class="medgenPMjournal">J Clin Lab Anal</span>
|
||
2020 Jul;34(7):e23265.
|
||
Epub 2020 Mar 6
|
||
doi: 10.1002/jcla.23265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32141654" target="_blank">32141654</a><a href="/pmc/articles/PMC7370744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24989974">Solution NMR structures of immunoglobulin-like domains 7 and 12 from obscurin-like protein 1 contribute to the structural coverage of the Human Cancer Protein Interaction Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pulavarti SV,
|
||
Huang YJ,
|
||
Pederson K,
|
||
Acton TB,
|
||
Xiao R,
|
||
Everett JK,
|
||
Prestegard JH,
|
||
Montelione GT,
|
||
Szyperski T</span><br />
|
||
<span class="medgenPMjournal">J Struct Funct Genomics</span>
|
||
2014 Dec;15(4):209-14.
|
||
Epub 2014 Jul 3
|
||
doi: 10.1007/s10969-014-9185-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24989974" target="_blank">24989974</a><a href="/pmc/articles/PMC4945113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23517720">3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meazza C,
|
||
Lausch E,
|
||
Pagani S,
|
||
Bozzola E,
|
||
Calcaterra V,
|
||
Superti-Furga A,
|
||
Silengo M,
|
||
Bozzola M</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2013 Mar 21;39:21.
|
||
doi: 10.1186/1824-7288-39-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23517720" target="_blank">23517720</a><a href="/pmc/articles/PMC3608257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23457316">Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Demir K,
|
||
Altıncık A,
|
||
Böber E</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2013;26(1-2):147-50.
|
||
doi: 10.1515/jpem-2012-0239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23457316" target="_blank">23457316</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-M%20syndrome%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/39643721">Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akalın A,
|
||
Özalkak Ş,
|
||
Yıldırım R,
|
||
Karakaya AA,
|
||
Kolbaşı B,
|
||
Durmuşalioğlu EA,
|
||
Kökali F,
|
||
Ürel-Demir G,
|
||
Öz V,
|
||
Ünal E,
|
||
Atik T,
|
||
Şimşek-Kiper PÖ,
|
||
Elcioglu NH</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Dec 7;184(1):68.
|
||
doi: 10.1007/s00431-024-05855-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39643721" target="_blank">39643721</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37673300">3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karacan Küçükali G,
|
||
Keskin M,
|
||
Aycan Z,
|
||
Savaş-Erdeve Ş,
|
||
Çetinkaya S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2023 Oct;66(10):104828.
|
||
Epub 2023 Sep 4
|
||
doi: 10.1016/j.ejmg.2023.104828.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37673300" target="_blank">37673300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141654">Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu L,
|
||
Wang X,
|
||
Jin T,
|
||
Han Y,
|
||
Liu J,
|
||
Jiang M,
|
||
Yan S,
|
||
Fu X,
|
||
An B,
|
||
Huang S</span><br />
|
||
<span class="medgenPMjournal">J Clin Lab Anal</span>
|
||
2020 Jul;34(7):e23265.
|
||
Epub 2020 Mar 6
|
||
doi: 10.1002/jcla.23265.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32141654" target="_blank">32141654</a><a href="/pmc/articles/PMC7370744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24989974">Solution NMR structures of immunoglobulin-like domains 7 and 12 from obscurin-like protein 1 contribute to the structural coverage of the Human Cancer Protein Interaction Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pulavarti SV,
|
||
Huang YJ,
|
||
Pederson K,
|
||
Acton TB,
|
||
Xiao R,
|
||
Everett JK,
|
||
Prestegard JH,
|
||
Montelione GT,
|
||
Szyperski T</span><br />
|
||
<span class="medgenPMjournal">J Struct Funct Genomics</span>
|
||
2014 Dec;15(4):209-14.
|
||
Epub 2014 Jul 3
|
||
doi: 10.1007/s10969-014-9185-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24989974" target="_blank">24989974</a><a href="/pmc/articles/PMC4945113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23517720">3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meazza C,
|
||
Lausch E,
|
||
Pagani S,
|
||
Bozzola E,
|
||
Calcaterra V,
|
||
Superti-Furga A,
|
||
Silengo M,
|
||
Bozzola M</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2013 Mar 21;39:21.
|
||
doi: 10.1186/1824-7288-39-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23517720" target="_blank">23517720</a><a href="/pmc/articles/PMC3608257" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-M%20syndrome%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
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|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="rightCol mgCol">
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<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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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1848862%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C1848862%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1848862%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C1848862%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1848862%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
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</ul></div>
|
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</div>
|
||
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS273750" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2616" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=3-M%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%223-m%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/three_m_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=3-M%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/3-m-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/5667/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_head">
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<h3>Reviews</h3>
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</div>
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<a href="/pubmed/20301654" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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