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<meta name="keywords" content="C1832432, amelia, autosomal recessive, amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, autosomal recessive amelia, disease or syndrome, pappas, tbx4, 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="Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed (Kariminejad et al., 2019). Heterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; 147891)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=321955
|
||
ConceptID=C1832432
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive amelia<span class="h1sub">(PAPPAS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321955</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:">C1832432</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Amelia, Autosomal Recessive</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Autosomal recessive amelia (726735000)</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 jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="TBX4 - ID: 9496 - NCBI Gene" href="/gene/9496" class="medgenPMinfo">TBX4</a> (17q23.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011054" target="_blank">MONDO:0011054</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601360" target="_blank">601360</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=1027">ORPHA1027</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed (Kariminejad et al., 2019). Heterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; 147891). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8014"><div><strong>Amelia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8014</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.">C0002447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital absence (aplasia) of one or more limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8014">Feature record</a> | <a href="/medgen?term=%22Amelia%22%5BClinical%20Features%5D%20OR%208014%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amelia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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><li><a href="#tabORDO">Orphanet</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=C1832432[DISCUI]&test_type=Clinical" ref="ncbi_uid=321955">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=321955" target="_blank" href="/omim/601360">O</a></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=321955" ref="ncbi_uid=321955">V</a></span></span><span class="TLline">Autosomal recessive amelia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842195" ref="tree=MeSH" title="MedGen record for Dysostosis with combined reduction defects of upper and lower limbs">Dysostosis with combined reduction defects of upper and lower limbs</a></span><ul><li><span class="matched_ds">Autosomal recessive amelia</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1335&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Autosomal recessive amelia</span> in Orphanet.</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/30204960">ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ismail S,
|
||
Essawi M,
|
||
Sedky N,
|
||
Hassan H,
|
||
Fayez A,
|
||
Helmy N,
|
||
Shehab M,
|
||
Farouk D,
|
||
Elruby M,
|
||
Otaify G,
|
||
Eldarsh A,
|
||
Hosny L,
|
||
Gaber K,
|
||
Aboul-Ezz EHA,
|
||
Ramzy MI,
|
||
Mehrez MI,
|
||
Hassib NF,
|
||
Elhadidi SMA,
|
||
Aglan MS,
|
||
Temtamy SA</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2016;27(3):305-323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30204960" target="_blank">30204960</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(autosomal%20recessive%20amelia)%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 (2)</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/33544791">Multidisciplinary approach to patients with manifestations and pulmonary complications of cystic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biciuşcă V,
|
||
Petrescu IO,
|
||
Singer CE,
|
||
Oancea AG,
|
||
Petrescu AM,
|
||
Stan IS,
|
||
Durand P,
|
||
Taisescu CI,
|
||
Dumitrescu D,
|
||
Dobrescu MA,
|
||
Udriştoiu I,
|
||
Tudoraşcu DR,
|
||
Petrescu F</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2020 Apr-Jun;61(2):397-406.
|
||
doi: 10.47162/RJME.61.2.09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33544791" target="_blank">33544791</a><a href="/pmc/articles/PMC7864299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18209617">Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eylon S,
|
||
Beeri M,
|
||
Joseph K,
|
||
Meyer S</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop</span>
|
||
2007 Dec;27(8):926-9.
|
||
doi: 10.1097/bpo.0b013e31815a6045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18209617" target="_blank">18209617</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9894165">Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Buggenhout G,
|
||
De Smet L,
|
||
Maroteaux P,
|
||
Fryns JP</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
1998;9(4):277-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9894165" target="_blank">9894165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7810558">von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubinsky MS,
|
||
Kahler SG,
|
||
Speer IE,
|
||
Hoyme HE,
|
||
Kirillova IA,
|
||
Lurie IW</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1994 Sep 1;52(3):272-8.
|
||
doi: 10.1002/ajmg.1320520305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7810558" target="_blank">7810558</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7379414">Genetics and limb deficiencies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenz W</span><br />
|
||
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
|
||
1980 May;(148):9-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7379414" target="_blank">7379414</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20amelia%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/34387910">Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zanetti A,
|
||
D'Avanzo F,
|
||
AlSayed M,
|
||
Brusius-Facchin AC,
|
||
Chien YH,
|
||
Giugliani R,
|
||
Izzo E,
|
||
Kasper DC,
|
||
Lin HY,
|
||
Lin SP,
|
||
Pollard L,
|
||
Singh A,
|
||
Tonin R,
|
||
Wood T,
|
||
Morrone A,
|
||
Tomanin R</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2021 Nov;42(11):1384-1398.
|
||
Epub 2021 Aug 23
|
||
doi: 10.1002/humu.24270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34387910" target="_blank">34387910</a><a href="/pmc/articles/PMC9291100" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29690975">A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mengen E,
|
||
Kotan LD,
|
||
Ucakturk SA,
|
||
Topaloglu AK,
|
||
Yuksel B</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2018 May;28(5):403-405.
|
||
doi: 10.29271/jcpsp.2018.05.403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29690975" target="_blank">29690975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27513971">Continuous Noninvasive Hemodynamic Monitoring in an Infant With Tetra-Amelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vadi MG,
|
||
Ghazal EA,
|
||
Malkin MR,
|
||
Ayodeji A,
|
||
Applegate RL 2nd</span><br />
|
||
<span class="medgenPMjournal">A A Case Rep</span>
|
||
2016 Sep 15;7(6):123-4.
|
||
doi: 10.1213/XAA.0000000000000361.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27513971" target="_blank">27513971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8705415">Prenatal diagnosis of unilateral tibial hemimelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreyfus M,
|
||
Baldauf JJ,
|
||
Rigaut E,
|
||
Clavert JM,
|
||
Gasser B,
|
||
Ritter J</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
1996 Mar;7(3):205-7.
|
||
doi: 10.1046/j.1469-0705.1996.07030205.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8705415" target="_blank">8705415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7625440">Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mollica F,
|
||
Mazzone D,
|
||
Cimino G,
|
||
Opitz JM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Mar 27;56(2):168-72.
|
||
doi: 10.1002/ajmg.1320560211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7625440" target="_blank">7625440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20amelia%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 (31)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27687383">Real-time measurement of blood pressure with Nexfin in a patient with thalidomide-related phocomelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Earle R,
|
||
Vaghadia H,
|
||
Shanahan E,
|
||
Tang R,
|
||
Sawka A</span><br />
|
||
<span class="medgenPMjournal">J Clin Anesth</span>
|
||
2016 Nov;34:244-6.
|
||
Epub 2016 May 13
|
||
doi: 10.1016/j.jclinane.2016.04.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27687383" target="_blank">27687383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12476458">Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marles SL,
|
||
Reed M,
|
||
Evans JA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 Jan 1;116A(1):85-9.
|
||
doi: 10.1002/ajmg.a.10731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12476458" target="_blank">12476458</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20amelia%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30590172">Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sezer A,
|
||
Kayhan G,
|
||
Zenker M,
|
||
Percin EF</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2019 Dec;62(12):103608.
|
||
Epub 2018 Dec 24
|
||
doi: 10.1016/j.ejmg.2018.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30590172" target="_blank">30590172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22069215">Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mroch AR,
|
||
Laudenschlager M,
|
||
Flanagan JD</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Jan;158A(1):155-8.
|
||
Epub 2011 Nov 8
|
||
doi: 10.1002/ajmg.a.34344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22069215" target="_blank">22069215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9894165">Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Buggenhout G,
|
||
De Smet L,
|
||
Maroteaux P,
|
||
Fryns JP</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
1998;9(4):277-81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9894165" target="_blank">9894165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8705415">Prenatal diagnosis of unilateral tibial hemimelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreyfus M,
|
||
Baldauf JJ,
|
||
Rigaut E,
|
||
Clavert JM,
|
||
Gasser B,
|
||
Ritter J</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
1996 Mar;7(3):205-7.
|
||
doi: 10.1046/j.1469-0705.1996.07030205.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8705415" target="_blank">8705415</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7625440">Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mollica F,
|
||
Mazzone D,
|
||
Cimino G,
|
||
Opitz JM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1995 Mar 27;56(2):168-72.
|
||
doi: 10.1002/ajmg.1320560211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7625440" target="_blank">7625440</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20amelia%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18411254">The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordillo M,
|
||
Vega H,
|
||
Trainer AH,
|
||
Hou F,
|
||
Sakai N,
|
||
Luque R,
|
||
Kayserili H,
|
||
Basaran S,
|
||
Skovby F,
|
||
Hennekam RC,
|
||
Uzielli ML,
|
||
Schnur RE,
|
||
Manouvrier S,
|
||
Chang S,
|
||
Blair E,
|
||
Hurst JA,
|
||
Forzano F,
|
||
Meins M,
|
||
Simola KO,
|
||
Raas-Rothschild A,
|
||
Schultz RA,
|
||
McDaniel LD,
|
||
Ozono K,
|
||
Inui K,
|
||
Zou H,
|
||
Jabs EW</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2008 Jul 15;17(14):2172-80.
|
||
Epub 2008 Apr 14
|
||
doi: 10.1093/hmg/ddn116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18411254" target="_blank">18411254</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/14872406">Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Niemann S,
|
||
Zhao C,
|
||
Pascu F,
|
||
Stahl U,
|
||
Aulepp U,
|
||
Niswander L,
|
||
Weber JL,
|
||
Müller U</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2004 Mar;74(3):558-63.
|
||
Epub 2004 Feb 5
|
||
doi: 10.1086/382196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14872406" target="_blank">14872406</a><a href="/pmc/articles/PMC1182269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10780921">A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Escamilla MA,
|
||
DeMille MC,
|
||
Benavides E,
|
||
Roche E,
|
||
Almasy L,
|
||
Pittman S,
|
||
Hauser J,
|
||
Lew DF,
|
||
Freimer NB,
|
||
Whittle MR</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2000 Jun;66(6):1995-2000.
|
||
Epub 2000 Apr 25
|
||
doi: 10.1086/302921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10780921" target="_blank">10780921</a><a href="/pmc/articles/PMC1378047" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8705415">Prenatal diagnosis of unilateral tibial hemimelia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dreyfus M,
|
||
Baldauf JJ,
|
||
Rigaut E,
|
||
Clavert JM,
|
||
Gasser B,
|
||
Ritter J</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
1996 Mar;7(3):205-7.
|
||
doi: 10.1046/j.1469-0705.1996.07030205.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8705415" target="_blank">8705415</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20amelia%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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|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
||
|
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|
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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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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1832432%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832432%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C1832432%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1832432%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601360" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1027" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20recessive%20amelia" 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=(autosomal%20recessive%20amelia)%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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|
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<a href="/pubmed/clinical?term=Autosomal%20recessive%20amelia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Autosomal%20recessive%20amelia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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