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<meta name="keywords" content="C0685787, cleft face, cleft of the face, congenital abnormality, craniofacial cleft, facial cleft, facial clefts, prosoposchisis, tessier cleft, tessier facial cleft, 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="A congenital malformation with a cleft (gap or opening) in the face." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=146898
|
||
ConceptID=C0685787
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Tessier cleft</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146898</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:">C0685787</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Facial cleft</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002006">HP:0002006</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015411" target="_blank">MONDO:0015411</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=141229">ORPHA141229</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A congenital malformation with a cleft (gap or opening) in the face. [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><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=C0685787[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=146898">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=146898" ref="ncbi_uid=146898">V</a></span></span><span class="TLline">Tessier cleft</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/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/1853793" ref="tree=MeSH" title="MedGen record for Craniofacial cleft">Craniofacial cleft</a></span><ul><li><span class="matched_ds">Tessier cleft</span><ul><li><span class="TLline"><a href="/medgen/867619" ref="tree=MeSH" title="MedGen record for Midline facial cleft">Midline facial cleft</a></span><ul><li><span class="TLline"><a href="/medgen/66379" ref="tree=MeSH" title="MedGen record for Bifid nose">Bifid nose</a></span></li><li><span class="TLline"><a href="/medgen/863033" ref="tree=MeSH" title="MedGen record for Familial median cleft of the upper and lower lips">Familial median cleft of the upper and lower lips</a></span></li><li><span class="TLline"><a href="/medgen/1803615" ref="tree=MeSH" title="MedGen record for Frontorhiny">Frontorhiny</a></span></li><li><span class="TLline"><a href="/medgen/444125" ref="tree=MeSH" title="MedGen record for Gollop syndrome">Gollop syndrome</a></span></li><li><span class="TLline"><a href="/medgen/784645" ref="tree=MeSH" title="MedGen record for Median cleft of the upper lip and maxilla">Median cleft of the upper lip and maxilla</a></span></li><li><span class="TLline"><a href="/medgen/1374384" ref="tree=MeSH" title="MedGen record for Midline brainstem cleft">Midline brainstem cleft</a></span></li><li><span class="TLline"><a href="/medgen/1389145" ref="tree=MeSH" title="MedGen record for Midline cleft of lower lip">Midline cleft of lower lip</a></span></li><li><span class="TLline"><a href="/medgen/1644064" ref="tree=MeSH" title="MedGen record for Tessier number 0 facial cleft">Tessier number 0 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1635999" ref="tree=MeSH" title="MedGen record for Tessier number 14 facial cleft">Tessier number 14 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1636615" ref="tree=MeSH" title="MedGen record for Tessier number 30 facial cleft">Tessier number 30 facial cleft</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/347491" ref="tree=MeSH" title="MedGen record for Orbital cleft">Orbital cleft</a></span><ul><li><span class="TLline"><a href="/medgen/1643789" ref="tree=MeSH" title="MedGen record for Tessier number 10 facial cleft">Tessier number 10 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1638874" ref="tree=MeSH" title="MedGen record for Tessier number 11 facial cleft">Tessier number 11 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1639445" ref="tree=MeSH" title="MedGen record for Tessier number 3 facial cleft">Tessier number 3 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1642051" ref="tree=MeSH" title="MedGen record for Tessier number 4 facial cleft">Tessier number 4 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/609364" ref="tree=MeSH" title="MedGen record for Tessier number 5 facial cleft">Tessier number 5 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1635323" ref="tree=MeSH" title="MedGen record for Tessier number 9 facial cleft">Tessier number 9 facial cleft</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1648013" ref="tree=MeSH" title="MedGen record for Paramedian facial cleft">Paramedian facial cleft</a></span><ul><li><span class="TLline"><a href="/medgen/1681273" ref="tree=MeSH" title="MedGen record for Paramedian nasal cleft">Paramedian nasal cleft</a></span></li><li><span class="TLline"><a href="/medgen/1634662" ref="tree=MeSH" title="MedGen record for Tessier number 1 facial cleft">Tessier number 1 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1639172" ref="tree=MeSH" title="MedGen record for Tessier number 12 facial cleft">Tessier number 12 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1633782" ref="tree=MeSH" title="MedGen record for Tessier number 13 facial cleft">Tessier number 13 facial cleft</a></span></li><li><span class="TLline"><a href="/medgen/1634409" ref="tree=MeSH" title="MedGen record for Tessier number 2 facial cleft">Tessier number 2 facial cleft</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></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=17064&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Tessier cleft</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_66322"><div><strong>Amniotic band syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66322</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.">C0220724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_113104"><div><strong>Hypertelorism, microtia, facial clefting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113104</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.">C0220742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113104">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78617"><div><strong>Cyclopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78617</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.">C0266667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births (Lacbawan et al., 2009). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent. In 'semilobar HPE,' the most common type of HPE in neonates who survive, there is partial cortical separation with rudimentary cerebral hemispheres and a single ventricle. In 'lobar HPE,' the ventricles are separated, but there is incomplete frontal cortical separation (Corsello et al., 1990). An additional milder form, called 'middle interhemispheric variant' (MIHV) has also been delineated, in which the posterior frontal and parietal lobes are incompletely separated and the corpus callosum may be hypoplastic (Lacbawan et al., 2009). Finally, microforms of HPE include a single maxillary median incisor or hypotelorism without the typical brain malformations (summary by Mercier et al., 2011). Cohen (2001) discussed problems in the definition of holoprosencephaly, which can be viewed from 2 different perspectives: anatomic (fixed) and genetic (broad). When the main interest is description, the anatomic perspective is appropriate. In genetic perspective, a fixed definition of holoprosencephaly is not appropriate because the same mutational cause may result in either holoprosencephaly or some microform of holoprosencephaly. Cohen (2001) concluded that both fixed and broad definitions are equally valid and depend on context. Munke (1989) provided an extensive review of the etiology and pathogenesis of holoprosencephaly, emphasizing heterogeneity. See also schizencephaly (269160), which may be part of the phenotypic spectrum of HPE. Genetic Heterogeneity of Holoprosencephaly Several loci for holoprosencephaly have been mapped to specific chromosomal sites and the molecular defects in some cases of HPE have been identified. Holoprosencephaly-1 (HPE1) maps to chromosome 21q22. See also HPE2 (157170), caused by mutation in the SIX3 gene (603714) on 2p21; HPE3 (142945), caused by mutation in the SHH gene (600725) on 7q36; HPE4 (142946), caused by mutation in the TGIF gene (602630) on 18p11; HPE5 (609637), caused by mutation in the ZIC2 gene (603073) on 13q32; HPE6 (605934), mapped to 2q37; HPE7 (610828), caused by mutation in the PTCH1 gene (601309) on 9q22; HPE8 (609408), mapped to 14q13; HPE9 (610829), caused by mutation in the GLI2 gene (165230) on 2q14; HPE10 (612530), mapped to 1q41-q42; HPE11 (614226), caused by mutation in the CDON gene (608707) on 11q24; HPE12 (618500), caused by mutation in the CNOT1 gene (604917) on 16q21; HPE13 (301043), caused by mutation in the STAG2 gene (300826) on Xq25; and HPE14 (619895), caused by mutation in the PLCH1 gene (612835) on 3q25. Wallis and Muenke (2000) gave an overview of mutations in holoprosencephaly. They indicated that at least 12 different loci had been associated with HPE. Mutations in genes involved in the multiprotein cohesin complex, including STAG2, have been shown to be involved in midline brain defects such as HPE. Mutations in some of those genes cause Cornelia de Lange syndrome (CDLS; see 122470), and some patients with severe forms of CDLS may have midline brain defects. See, for example, CDLS2 (300590), CDLS3 (610759), and CDLS4 (614701).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78617">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208657"><div><strong>3MC syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208657</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.">C0796032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208657">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_321957"><div><strong>Amelia cleft lip palate hydrocephalus iris coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>321957</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.">C1832434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/321957">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322166"><div><strong>Anophthalmia plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322166</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.">C1833339</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322166">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_337894"><div><strong>Bartsocas-Papas syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337894</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.">C1849718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). Genetic Heterogeneity of Bartsocas-Papas Syndrome Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664). A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337894">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462056"><div><strong>Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462056</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.">C3150706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.\n\nOther features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.\n\nThere are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type.\n\nLife expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462056">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1639061"><div><strong>Fraser syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1639061</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.">C4551480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1639061">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3MC syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_321957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amelia cleft lip palate hydrocephalus iris coloboma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amniotic band syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anophthalmia plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bartsocas-Papas syndrome 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cyclopia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1639061" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fraser syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_113104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism, microtia, facial clefting syndrome</a></div></span></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/37499560">Surgical correction of Tessier cleft no. 7: A single center 18-year experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heng SSL,
|
||
Ganandran T,
|
||
Gan YH,
|
||
Mat Zain MA,
|
||
Basiron N,
|
||
Wan Sulaiman WA</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2023 Oct;85:187-192.
|
||
Epub 2023 Jul 8
|
||
doi: 10.1016/j.bjps.2023.07.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37499560" target="_blank">37499560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791155">Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Das D,
|
||
Modaboyina S,
|
||
Agrawal S,
|
||
Pushker N,
|
||
Meel R,
|
||
Bajaj MS</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2552-2558.
|
||
doi: 10.4103/ijo.IJO_86_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791155" target="_blank">35791155</a><a href="/pmc/articles/PMC9426171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34514882">Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonello C,
|
||
Martins DANDP,
|
||
Baptista MAFB,
|
||
Mondelli F,
|
||
Kokitsu Nakata NM,
|
||
Feitosa LB,
|
||
Alonso N</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2022 Oct;59(10):1228-1232.
|
||
Epub 2021 Sep 13
|
||
doi: 10.1177/10556656211042172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34514882" target="_blank">34514882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30892112">Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
|
||
Selva D,
|
||
Nayak A,
|
||
Psaltis A,
|
||
Ali MJ</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2020 Feb;39(1):1-4.
|
||
Epub 2019 Mar 20
|
||
doi: 10.1080/01676830.2019.1582072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30892112" target="_blank">30892112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239768">Phenotypic spectrum of Tessier facial cleft number 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Racz C,
|
||
Dakpé S,
|
||
Kadlub N,
|
||
Testelin S,
|
||
Devauchelle B,
|
||
Rachwalski M,
|
||
Picard A</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2018 Jan;46(1):22-27.
|
||
Epub 2017 Oct 27
|
||
doi: 10.1016/j.jcms.2017.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239768" target="_blank">29239768</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tessier%20cleft%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37924347">Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazari S,
|
||
Vaezi A,
|
||
Mossavarali S,
|
||
Ghanavati K,
|
||
Shafiee A</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Jan;183(1):73-82.
|
||
Epub 2023 Nov 4
|
||
doi: 10.1007/s00431-023-05322-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37924347" target="_blank">37924347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791155">Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Das D,
|
||
Modaboyina S,
|
||
Agrawal S,
|
||
Pushker N,
|
||
Meel R,
|
||
Bajaj MS</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2552-2558.
|
||
doi: 10.4103/ijo.IJO_86_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791155" target="_blank">35791155</a><a href="/pmc/articles/PMC9426171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34514882">Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonello C,
|
||
Martins DANDP,
|
||
Baptista MAFB,
|
||
Mondelli F,
|
||
Kokitsu Nakata NM,
|
||
Feitosa LB,
|
||
Alonso N</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2022 Oct;59(10):1228-1232.
|
||
Epub 2021 Sep 13
|
||
doi: 10.1177/10556656211042172.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34514882" target="_blank">34514882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30892112">Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
|
||
Selva D,
|
||
Nayak A,
|
||
Psaltis A,
|
||
Ali MJ</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2020 Feb;39(1):1-4.
|
||
Epub 2019 Mar 20
|
||
doi: 10.1080/01676830.2019.1582072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30892112" target="_blank">30892112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27712820">Tessier Clefts and Hypertelorism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winters R</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg Clin North Am</span>
|
||
2016 Nov;24(4):545-558.
|
||
doi: 10.1016/j.fsc.2016.06.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27712820" target="_blank">27712820</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tessier%20cleft%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791155">Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Das D,
|
||
Modaboyina S,
|
||
Agrawal S,
|
||
Pushker N,
|
||
Meel R,
|
||
Bajaj MS</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2552-2558.
|
||
doi: 10.4103/ijo.IJO_86_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791155" target="_blank">35791155</a><a href="/pmc/articles/PMC9426171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35662542">An alternative way for fronto-orbito-zygomatic reconstruction in congenital malformations: A case report with 4-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chauvel-Picard J,
|
||
Quenot T,
|
||
Paulus C,
|
||
Gleizal A</span><br />
|
||
<span class="medgenPMjournal">J Stomatol Oral Maxillofac Surg</span>
|
||
2022 Sep;123(4):e224-e227.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1016/j.jormas.2022.05.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35662542" target="_blank">35662542</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30892112">Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh S,
|
||
Selva D,
|
||
Nayak A,
|
||
Psaltis A,
|
||
Ali MJ</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2020 Feb;39(1):1-4.
|
||
Epub 2019 Mar 20
|
||
doi: 10.1080/01676830.2019.1582072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30892112" target="_blank">30892112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29239768">Phenotypic spectrum of Tessier facial cleft number 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Racz C,
|
||
Dakpé S,
|
||
Kadlub N,
|
||
Testelin S,
|
||
Devauchelle B,
|
||
Rachwalski M,
|
||
Picard A</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2018 Jan;46(1):22-27.
|
||
Epub 2017 Oct 27
|
||
doi: 10.1016/j.jcms.2017.10.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29239768" target="_blank">29239768</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24933239">The Tessier number 3 cleft: a report of 10 cases and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allam KA,
|
||
Lim AA,
|
||
Elsherbiny A,
|
||
Kawamoto HK</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2014 Aug;67(8):1055-62.
|
||
Epub 2014 May 10
|
||
doi: 10.1016/j.bjps.2014.04.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24933239" target="_blank">24933239</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tessier%20cleft%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37924347">Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazari S,
|
||
Vaezi A,
|
||
Mossavarali S,
|
||
Ghanavati K,
|
||
Shafiee A</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Jan;183(1):73-82.
|
||
Epub 2023 Nov 4
|
||
doi: 10.1007/s00431-023-05322-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37924347" target="_blank">37924347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791155">Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Das D,
|
||
Modaboyina S,
|
||
Agrawal S,
|
||
Pushker N,
|
||
Meel R,
|
||
Bajaj MS</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2552-2558.
|
||
doi: 10.4103/ijo.IJO_86_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791155" target="_blank">35791155</a><a href="/pmc/articles/PMC9426171" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26170000">Tessier No. 3 and No. 4 clefts: Sequential treatment in infancy by pre-surgical orthopedic skeletal contraction, comprehensive reconstruction, and novel surgical lengthening of the ala base-canthal distance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spolyar JL,
|
||
Hnatiuk M,
|
||
Shaheen KW,
|
||
Mertz JK,
|
||
Handler LF,
|
||
Jarial R,
|
||
Roldán JC</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2015 Sep;43(7):1261-8.
|
||
Epub 2015 Jun 18
|
||
doi: 10.1016/j.jcms.2015.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26170000" target="_blank">26170000</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24677696">Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savastano CP,
|
||
Bernardi P,
|
||
Seuánez HN,
|
||
Moreira MÂ,
|
||
Orioli IM</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res A Clin Mol Teratol</span>
|
||
2014 Apr;100(4):300-6.
|
||
Epub 2014 Feb 12
|
||
doi: 10.1002/bdra.23216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24677696" target="_blank">24677696</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tessier%20cleft%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 (4)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37924347">Cardiovascular anomalies in patients with Tessier syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazari S,
|
||
Vaezi A,
|
||
Mossavarali S,
|
||
Ghanavati K,
|
||
Shafiee A</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2024 Jan;183(1):73-82.
|
||
Epub 2023 Nov 4
|
||
doi: 10.1007/s00431-023-05322-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37924347" target="_blank">37924347</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Tessier%20cleft%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0685787%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0685787%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0685787%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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