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<meta name="keywords" content="C0031575, congenital abnormality, congenital absence of proximal portion of limb, phocomelia, phocomelic dwarf, 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="Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=10721
|
||
ConceptID=C0031575
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Phocomelia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10721</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.">C0031575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Congenital absence of proximal portion of limb; Phocomelic dwarf</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Phocomelia (22841008); Phocomelic dwarf (22841008); Congenital absence of proximal portion of limb (22841008)</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:0009829">HP:0009829</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). [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>
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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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0031575[DISCUI]&test_type=Clinical" ref="ncbi_uid=10721">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10721" ref="ncbi_uid=10721">V</a></span></span><span class="TLline">Phocomelia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868758" ref="tree=MeSH" title="MedGen record for Abnormal appendicular skeleton morphology">Abnormal appendicular skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866811" ref="tree=MeSH" title="MedGen record for Abnormal long bone morphology">Abnormal long bone morphology</a></span><ul><li><span class="matched_ds">Phocomelia</span><ul><li><span class="TLline"><a href="/medgen/82718" ref="tree=MeSH" title="MedGen record for Lower limb phocomelia">Lower limb phocomelia</a></span></li><li><span class="TLline"><a href="/medgen/376571" ref="tree=MeSH" title="MedGen record for Tetraphocomelia">Tetraphocomelia</a></span></li><li><span class="TLline"><a href="/medgen/82715" ref="tree=MeSH" title="MedGen record for Upper limb phocomelia">Upper limb phocomelia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_61235"><div><strong>Radial aplasia-thrombocytopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61235</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.">C0175703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61235">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0265264</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_95931"><div><strong>Roberts-SC phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95931</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.">C0392475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/95931">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336388"><div><strong>Schinzel phocomelia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336388</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.">C1848651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010). Overlapping limb reduction syndromes, less severe in nature, that are also caused by homozygous mutation in the WNT7A gene include Fuhrmann syndrome (228930), characterized by fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly, and Santos syndrome (228930), characterized by fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia. Al-Qattan et al. (2013) stated that AARRS and Fuhrmann syndrome can be differentiated by the following features, which are seen only in AARRS: complete aplasia of 1 or both lower limbs, and absent elbow with radiohumeral synostosis. In addition, the number of digits per hand is 1 to 3 in AARRS, whereas there are 4 to 5 digits in Fuhrmann syndrome. 'Phocomelia' refers to an intercalary limb defect with the hand or foot being directly attached to the humerus or femur (absent zeugopod) or directly attached to the trunk (absent stylopod and zeugopod). AlQattan et al. (2013) stated that the limb defect observed in Schinzel phocomelia syndrome represents 'true' phocomelia, whereas the limb defect in AARRS is an 'apparent' phocomelia, in which there is absent ulna with radiohumeral synostosis. The authors described 3 radiologic features that define 'apparent' phocomelia: a single arm/forearm bone that appears too long to be the humerus alone; a thicker cortex at the area of the radiohumeral synostosis, with or without slight angulation at the site of synostosis; and the apparently single bone resembling the humerus proximally and the radius distally. The authors also noted that phocomelia is not a feature of the allelic disorder Fuhrmann syndrome (228930). Other distinguishing features of Schinzel phocomelia syndrome include normal nails and dorsal hand skin; distoproximal gradient of lower limb defects, without a resultant stick-like appearance; and a characteristic large cranial defect. AlQattan et al. (2013) concluded that Schinzel phocomelia syndrome and AARRS are distinct phenotypes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336388">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341728"><div><strong>Von Voss-Cherstvoy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341728</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.">C1857226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341728">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_401047"><div><strong>Holoprosencephaly-radial heart renal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401047</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.">C1866649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/401047">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="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_401047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly-radial heart renal anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial aplasia-thrombocytopenia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_95931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Roberts-SC phocomelia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schinzel phocomelia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Von Voss-Cherstvoy syndrome</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/19650417">Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ceylaner S,
|
||
Ceylaner G,
|
||
Altun M,
|
||
Coşkun A,
|
||
Danisman N</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2009;20(2):189-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19650417" target="_blank">19650417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16380922">Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schüle B,
|
||
Oviedo A,
|
||
Johnston K,
|
||
Pai S,
|
||
Francke U</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2005 Dec;77(6):1117-28.
|
||
Epub 2005 Oct 31
|
||
doi: 10.1086/498695.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16380922" target="_blank">16380922</a><a href="/pmc/articles/PMC1285169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3295847">Prenatal diagnosis of thalidomide syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gollop TR,
|
||
Eigier A,
|
||
Guidugli Neto J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1987 May;7(4):295-8.
|
||
doi: 10.1002/pd.1970070411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3295847" target="_blank">3295847</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22phocomelia%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 (5)</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/38807349">Was thalidomide a placebo hypnotic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Justman S</span><br />
|
||
<span class="medgenPMjournal">J R Coll Physicians Edinb</span>
|
||
2024 Jun;54(2):161-164.
|
||
Epub 2024 May 28
|
||
doi: 10.1177/14782715241258503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38807349" target="_blank">38807349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37831787">Congenital Ankylosis of the Knee Treated with Van Nes Rotationplasty: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siebert MJ,
|
||
Roach JW,
|
||
Stotts AK</span><br />
|
||
<span class="medgenPMjournal">JBJS Case Connect</span>
|
||
2023 Oct 1;13(4)
|
||
Epub 2023 Oct 13
|
||
doi: 10.2106/JBJS.CC.23.00303.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37831787" target="_blank">37831787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19114950">Rational use of antimicrobials in dentistry during pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lodi KB,
|
||
Carvalho LF,
|
||
Koga-Ito CY,
|
||
Carvalho VA,
|
||
Rocha RF</span><br />
|
||
<span class="medgenPMjournal">Med Oral Patol Oral Cir Bucal</span>
|
||
2009 Jan 1;14(1):E15-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19114950" target="_blank">19114950</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12809650">The classification of phocomelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tytherleigh-Strong G,
|
||
Hooper G</span><br />
|
||
<span class="medgenPMjournal">J Hand Surg Br</span>
|
||
2003 Jun;28(3):215-7.
|
||
doi: 10.1016/s0266-7681(02)00392-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12809650" target="_blank">12809650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3146292">Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ward RE,
|
||
Bixler D,
|
||
Provisor AJ,
|
||
Bader P</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet Suppl</span>
|
||
1986;2:207-14.
|
||
doi: 10.1002/ajmg.1320250625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3146292" target="_blank">3146292</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Phocomelia%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 (39)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36353751">Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pakkasjärvi N,
|
||
Syvänen J,
|
||
Wiro M,
|
||
Koskimies-Virta E</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res</span>
|
||
2022 Dec 1;114(20):1427-1433.
|
||
Epub 2022 Nov 9
|
||
doi: 10.1002/bdr2.2123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36353751" target="_blank">36353751</a><a href="/pmc/articles/PMC10100479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26042905">Congenital limb deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilcox WR,
|
||
Coulter CP,
|
||
Schmitz ML</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2015 Jun;42(2):281-300, viii.
|
||
doi: 10.1016/j.clp.2015.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26042905" target="_blank">26042905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9028456">Tetra-amelia and splenogonadal fusion in Roberts syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Ravel TJ,
|
||
Seftel MD,
|
||
Wright CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1997 Jan 20;68(2):185-9.
|
||
doi: 10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9028456" target="_blank">9028456</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2658590">Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robins DB,
|
||
Ladda RL,
|
||
Thieme GA,
|
||
Boal DK,
|
||
Emanuel BS,
|
||
Zackai EH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1989 Mar;32(3):390-4.
|
||
doi: 10.1002/ajmg.1320320325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2658590" target="_blank">2658590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3295847">Prenatal diagnosis of thalidomide syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gollop TR,
|
||
Eigier A,
|
||
Guidugli Neto J</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
1987 May;7(4):295-8.
|
||
doi: 10.1002/pd.1970070411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3295847" target="_blank">3295847</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Phocomelia%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 (78)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38807349">Was thalidomide a placebo hypnotic?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Justman S</span><br />
|
||
<span class="medgenPMjournal">J R Coll Physicians Edinb</span>
|
||
2024 Jun;54(2):161-164.
|
||
Epub 2024 May 28
|
||
doi: 10.1177/14782715241258503.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38807349" target="_blank">38807349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30335598">The teratogenic effects of thalidomide on limbs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vargesson N</span><br />
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|
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2019 Jan;44(1):88-95.
|
||
Epub 2018 Oct 18
|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/30335598" target="_blank">30335598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26043938">Thalidomide-induced teratogenesis: history and mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vargesson N</span><br />
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<span class="medgenPMjournal">Birth Defects Res C Embryo Today</span>
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2015 Jun;105(2):140-56.
|
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Epub 2015 Jun 4
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|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/19921660">Thalidomide-induced limb defects: resolving a 50-year-old puzzle.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vargesson N</span><br />
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<span class="medgenPMjournal">Bioessays</span>
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|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/5033176">Phocomelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Super M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Phocomelia%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 (46)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36353751">Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pakkasjärvi N,
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Syvänen J,
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Wiro M,
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Koskimies-Virta E</span><br />
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<span class="medgenPMjournal">Birth Defects Res</span>
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2022 Dec 1;114(20):1427-1433.
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Epub 2022 Nov 9
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doi: 10.1002/bdr2.2123.
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<span class="bold">PMID: </span><a href="/pubmed/36353751" target="_blank">36353751</a><a href="/pmc/articles/PMC10100479" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33315162">Successful pregnancy outcome in two sisters with cerebral palsy and phocomelia: a case report and literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cerovac A,
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Habek D,
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2021 Mar;171(3-4):79-81.
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Epub 2020 Dec 14
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<span class="bold">PMID: </span><a href="/pubmed/33315162" target="_blank">33315162</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/16702456">Obstetric US: watch the fetal hands.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Rypens F,
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Dubois J,
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Garel L,
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Fournet JC,
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2006 May-Jun;26(3):811-29; discussion 830-1.
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<span class="bold">PMID: </span><a href="/pubmed/16702456" target="_blank">16702456</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/10392652">Shoulder joint replacement for osteoarthrosis in association with thalidomide-induced phocomelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Newman RJ</span><br />
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<span class="medgenPMjournal">Clin Rehabil</span>
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1999 Jun;13(3):250-2.
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<span class="bold">PMID: </span><a href="/pubmed/10392652" target="_blank">10392652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2300016">Thalidomide, pregnancy and renal failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown MA,
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|
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Phocomelia%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 (28)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27642715">Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Irving MD,
|
||
Dimitrov BI,
|
||
Wessels M,
|
||
Holder-Espinasse M,
|
||
Chitayat D,
|
||
Simpson MA</span><br />
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||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Dec;170(12):3133-3137.
|
||
Epub 2016 Sep 19
|
||
doi: 10.1002/ajmg.a.37946.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27642715" target="_blank">27642715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15604874">Corneal endothelial abnormalities associated with thalidomide toxicity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srinivasan S,
|
||
Perez-Gomez I,
|
||
O'Donnell C,
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||
Batterbury M</span><br />
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||
<span class="medgenPMjournal">Cornea</span>
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||
2005 Jan;24(1):103-5.
|
||
doi: 10.1097/01.ico.0000133998.45262.ca.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15604874" target="_blank">15604874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7810557">DK-phocomelia syndrome in a child with a long follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urioste M,
|
||
Paisán L,
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||
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|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/7810557" target="_blank">7810557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2658590">Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robins DB,
|
||
Ladda RL,
|
||
Thieme GA,
|
||
Boal DK,
|
||
Emanuel BS,
|
||
Zackai EH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1989 Mar;32(3):390-4.
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/2658590" target="_blank">2658590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7447042">Production of congenital limb defects with retinoic acid: phenomenological evidence of progressive differentiation during limb morphogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwasigroch TE,
|
||
Kochhar DM</span><br />
|
||
<span class="medgenPMjournal">Anat Embryol (Berl)</span>
|
||
1980;161(1):105-13.
|
||
doi: 10.1007/BF00304671.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7447042" target="_blank">7447042</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Phocomelia%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 (32)</a></div></div>
|
||
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|
||
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|
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||
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|
||
<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0031575%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C0031575%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0031575%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Phocomelia" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22phocomelia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Phocomelia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0031575[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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</div>
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<div class="row">
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<div class="col-lg-12 centered-lg">
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||
<nav class="bottom-links">
|
||
<ul class="mt-3">
|
||
<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
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</li>
|
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</ul>
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||
</nav>
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</div>
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</div>
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</section>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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