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<!--
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||
UID=232948
|
||
ConceptID=C1321884
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vaginal atresia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232948</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.">C1321884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormally closed or absent vagina; vaginal atresia</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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:0000148">HP:0000148</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019007" target="_blank">MONDO:0019007</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=65681">ORPHA65681</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">Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Vaginal atresia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/866746" ref="tree=MeSH" title="MedGen record for Abnormal reproductive system morphology">Abnormal reproductive system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871261" ref="tree=MeSH" title="MedGen record for Genital tract atresia">Genital tract atresia</a></span><ul><li><span class="matched_ds">Vaginal atresia</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=10871&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Vaginal atresia</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_7858"><div><strong>Acrocephalosyndactyly type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7858</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.">C0001193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7858">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_184924"><div><strong>McKusick-Kaufman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>184924</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.">C0948368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">McKusick-Kaufman syndrome (MKS) is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males (most commonly hypospadias, cryptorchidism, and chordee). HMC in infants usually presents as a large cystic abdominal mass arising out of the pelvis, caused by dilatation of the vagina and uterus as a result of the accumulation of cervical secretions from maternal estrogen stimulation. HMC can be caused by failure of the distal third of the vagina to develop (vaginal agenesis), a transverse vaginal membrane, or an imperforate hymen. PAP is the presence of additional digits on the ulnar side of the hand and the fibular side of the foot. A variety of congenital heart defects have been reported including atrioventricular canal, atrial septal defect, ventricular septal defect, or a complex congenital heart malformation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/184924">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_301437"><div><strong>Renal hypodysplasia/aplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301437</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.">C1619700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). Genetic Heterogeneity of Renal Hypodysplasia/Aplasia See also RHDA2 (615721), caused by mutation in the FGF20 gene (605558) on chromosome 8p22; RHDA3 (617805), caused by mutation in the GREB1L gene (617782) on chromosome 18q11; and RHDA4 (619887), caused by mutation in the GFRA1 gene (601496) on chromosome 10q25.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301437">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341454"><div><strong>Renal-genital-middle ear anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341454</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.">C1849432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341454">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383680"><div><strong>Oculotrichoanal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383680</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.">C1855425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">FREM1 autosomal recessive disorders include Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383680">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347610"><div><strong>Bardet-Biedl syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347610</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.">C1858054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Bardet-Biedl syndrome-6 (BBS6) is an autosomal recessive disorder with the cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347610">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_347910"><div><strong>Bardet-Biedl syndrome 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347910</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.">C1859570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">BBS12 is a clinically pleiotropic autosomal recessive ciliopathy. The patients with BBS12 studied by Stoetzel et al. (2007) and Harville et al. (2010) met the diagnostic criteria of Beales et al. (1999), which required the presence of either 4 primary features, including rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism (in males), and/or renal anomalies; or 3 primary plus 2 secondary features (e.g., developmental delay, ataxia, cataracts). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347910">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422448"><div><strong>Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422448</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.">C2936791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/422448">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_422452"><div><strong>Bardet-Biedl syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>422452</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.">C2936862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/422452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_860705"><div><strong>Tetraamelia syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>860705</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.">C4012268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tetraamelia syndrome-1 (TETAMS1) is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndrome Tetraamelia syndrome-2 (TETAMS2; 618021) is caused by mutation in the RSPO2 gene (610575) on chromosome 8q23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/860705">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_864138"><div><strong>Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864138</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.">C4015701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/864138">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934691"><div><strong>Short-rib thoracic dysplasia 15 with polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934691</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.">C4310724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/934691">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>
|
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<div class="divPopper rprt" id="rdis_1641618"><div><strong>Microcephaly 20, primary, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641618</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.">C4693572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1641618">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocephalosyndactyly type I</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422448" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_422452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 12</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bardet-Biedl syndrome 6</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<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>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_864138" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_184924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McKusick-Kaufman syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly 20, primary, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculotrichoanal syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_301437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal hypodysplasia/aplasia 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal-genital-middle ear anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934691" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 15 with polydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_860705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetraamelia syndrome 1</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35842237">First-Line Therapy for Vaginal Atresia. Conservative Treatment vs Surgical Techniques: Quandaries Looking at Numbers.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lucchetti MC,
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Tassi A</span><br />
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<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
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2022 Aug;35(4):426-428.
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doi: 10.1016/j.jpag.2022.01.011.
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<span class="bold">PMID: </span><a href="/pubmed/35842237" target="_blank">35842237</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/35489471">Diagnosis and Management of Mullerian Anomalies Across Differing Resource Settings: Worldwide Adaptations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE</span><br />
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<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
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2022 Oct;35(5):536-540.
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Epub 2022 Apr 27
|
||
doi: 10.1016/j.jpag.2022.04.007.
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<span class="bold">PMID: </span><a href="/pubmed/35489471" target="_blank">35489471</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29177625">Hydrometrocolpos etiology and management: past beckons the present.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khanna K,
|
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Sharma S,
|
||
Gupta DK</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2018 Mar;34(3):249-261.
|
||
Epub 2017 Nov 24
|
||
doi: 10.1007/s00383-017-4218-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29177625" target="_blank">29177625</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22vaginal%20atresia%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 (12)</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/36305896">Reconstructive surgery for congenital atresia of the uterine cervix: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fedele F,
|
||
Parazzini F,
|
||
Vercellini P,
|
||
Bergamini V,
|
||
Fedele L</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2023 Sep;308(3):685-700.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1007/s00404-022-06825-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36305896" target="_blank">36305896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36316217">Distal vaginal agenesis and differential diagnosis of other causes of hematocolpos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hobzová Pavlína,
|
||
Chubanovová Nikoleta,
|
||
Nováčková Marta</span><br />
|
||
<span class="medgenPMjournal">Ceska Gynekol</span>
|
||
2022;87(5):350-355.
|
||
doi: 10.48095/cccg2022350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36316217" target="_blank">36316217</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30982355">MRI features and differential diagnoses of congenital vaginal atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu S,
|
||
Zhang J,
|
||
Wang S,
|
||
Yang L,
|
||
Qian J,
|
||
Yue S,
|
||
Zhu D,
|
||
Yang L,
|
||
Zhao L,
|
||
Yang A,
|
||
Li Y,
|
||
Xue Q</span><br />
|
||
<span class="medgenPMjournal">Gynecol Endocrinol</span>
|
||
2019 Sep;35(9):777-781.
|
||
Epub 2019 Apr 13
|
||
doi: 10.1080/09513590.2019.1588875.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30982355" target="_blank">30982355</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25746703">Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandya KA,
|
||
Koga H,
|
||
Okawada M,
|
||
Coran AG,
|
||
Yamataka A,
|
||
Teitelbaum DH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2015 Mar;50(3):431-7.
|
||
Epub 2014 Oct 1
|
||
doi: 10.1016/j.jpedsurg.2014.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25746703" target="_blank">25746703</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7657013">Congenital absence of the vagina--results of conservative treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lappöhn RE</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
1995 Apr;59(2):183-6.
|
||
doi: 10.1016/0028-2243(94)02037-f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7657013" target="_blank">7657013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vaginal%20atresia%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 (53)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36316217">Distal vaginal agenesis and differential diagnosis of other causes of hematocolpos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hobzová Pavlína,
|
||
Chubanovová Nikoleta,
|
||
Nováčková Marta</span><br />
|
||
<span class="medgenPMjournal">Ceska Gynekol</span>
|
||
2022;87(5):350-355.
|
||
doi: 10.48095/cccg2022350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36316217" target="_blank">36316217</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27846665">Menstrual, Sexual, and Obstetrical Outcomes after Vaginal Replacement for Vaginal Atresia Associated with Anorectal Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skerritt C,
|
||
Vilanova Sánchez A,
|
||
Lane VA,
|
||
Wood RJ,
|
||
Hewitt GD,
|
||
Breech LL,
|
||
Levitt M</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr Surg</span>
|
||
2017 Dec;27(6):495-502.
|
||
Epub 2016 Nov 15
|
||
doi: 10.1055/s-0036-1593610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27846665" target="_blank">27846665</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25438708">Obstructive reproductive tract anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE,
|
||
Millar DM,
|
||
Quint EH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2014 Dec;27(6):396-402.
|
||
Epub 2014 Sep 11
|
||
doi: 10.1016/j.jpag.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25438708" target="_blank">25438708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24554677">Fetal ascites and hydrometrocolpos due to persistent urogenital sinus and cloaca: a rare congenital anomaly and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nigam A,
|
||
Kumar M,
|
||
Gulati S</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2014 Feb 19;2014
|
||
doi: 10.1136/bcr-2013-202231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24554677" target="_blank">24554677</a><a href="/pmc/articles/PMC3931976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10415305">Bladder agenesis with urometrocolpos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasat LS,
|
||
Borwankar SS,
|
||
Naregal A,
|
||
Jain M,
|
||
Sakalkale RP,
|
||
Bajaj R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
1999 Jul;15(5-6):415-6.
|
||
doi: 10.1007/s003830050618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10415305" target="_blank">10415305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vaginal%20atresia%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 (107)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35442816">Endoluminal Silicone-Covered Stenting in Children: Novel Applications and Lessons Learned.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel AD,
|
||
D'Cruz R,
|
||
Olson J,
|
||
Lucas M,
|
||
Baron CM,
|
||
Novotny NM,
|
||
Zamora IJ,
|
||
Lovvorn HN 3rd</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2022 Jul;88(7):1557-1560.
|
||
Epub 2022 Apr 20
|
||
doi: 10.1177/00031348221083950.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35442816" target="_blank">35442816</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27087418">The clinical application of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital absence of vagina.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qin C,
|
||
Luo G,
|
||
Du M,
|
||
Liao S,
|
||
Wang C,
|
||
Xu K,
|
||
Tang J,
|
||
Li B,
|
||
Zhang J,
|
||
Pan H,
|
||
Ball TW,
|
||
Fang Y</span><br />
|
||
<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
2016 Jun;133(3):320-4.
|
||
Epub 2016 Mar 2
|
||
doi: 10.1016/j.ijgo.2015.11.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27087418" target="_blank">27087418</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26220349">Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansouri R,
|
||
Dietrich JE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2015 Dec;28(6):433-6.
|
||
Epub 2014 Dec 23
|
||
doi: 10.1016/j.jpag.2014.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26220349" target="_blank">26220349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6996127">Vaginoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cairns TS,
|
||
de Villiers W</span><br />
|
||
<span class="medgenPMjournal">S Afr Med J</span>
|
||
1980 Jan 12;57(2):50-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6996127" target="_blank">6996127</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4577604">Vaginal atresia corrected by use of small and large bowel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pratt JH</span><br />
|
||
<span class="medgenPMjournal">Clin Obstet Gynecol</span>
|
||
1972 Sep;15(3):639-49.
|
||
doi: 10.1097/00003081-197209000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4577604" target="_blank">4577604</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vaginal%20atresia%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36112181">Comparison of two different methods for cervicovaginal reconstruction: a long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu X,
|
||
Ding J,
|
||
Li Y,
|
||
Hua K,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">Int Urogynecol J</span>
|
||
2023 Jan;34(1):247-254.
|
||
Epub 2022 Sep 16
|
||
doi: 10.1007/s00192-022-05327-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36112181" target="_blank">36112181</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29270755">Congenital vaginal atresia: A report of 39 cases in a regional Obstetrics and Gynecology Hospital.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang M,
|
||
Zhang MX,
|
||
Li GL,
|
||
Xu CJ</span><br />
|
||
<span class="medgenPMjournal">J Huazhong Univ Sci Technolog Med Sci</span>
|
||
2017 Dec;37(6):928-932.
|
||
Epub 2017 Dec 21
|
||
doi: 10.1007/s11596-017-1829-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29270755" target="_blank">29270755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26220349">Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansouri R,
|
||
Dietrich JE</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2015 Dec;28(6):433-6.
|
||
Epub 2014 Dec 23
|
||
doi: 10.1016/j.jpag.2014.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26220349" target="_blank">26220349</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10415305">Bladder agenesis with urometrocolpos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kasat LS,
|
||
Borwankar SS,
|
||
Naregal A,
|
||
Jain M,
|
||
Sakalkale RP,
|
||
Bajaj R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
1999 Jul;15(5-6):415-6.
|
||
doi: 10.1007/s003830050618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10415305" target="_blank">10415305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7657013">Congenital absence of the vagina--results of conservative treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lappöhn RE</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
1995 Apr;59(2):183-6.
|
||
doi: 10.1016/0028-2243(94)02037-f.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7657013" target="_blank">7657013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vaginal%20atresia%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36112181">Comparison of two different methods for cervicovaginal reconstruction: a long-term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu X,
|
||
Ding J,
|
||
Li Y,
|
||
Hua K,
|
||
Zhang X</span><br />
|
||
<span class="medgenPMjournal">Int Urogynecol J</span>
|
||
2023 Jan;34(1):247-254.
|
||
Epub 2022 Sep 16
|
||
doi: 10.1007/s00192-022-05327-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36112181" target="_blank">36112181</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33321256">Laparoscopically Assisted Uterovaginal Canalization and Vaginoplasty for Patients with Congenital Cervical and Vaginal Atresia: A Step-by-step Guide and Long-term Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kang J,
|
||
Chen N,
|
||
Zhang Y,
|
||
Ma C,
|
||
Ma Y,
|
||
Wang Y,
|
||
Tian W,
|
||
Zhu L</span><br />
|
||
<span class="medgenPMjournal">J Minim Invasive Gynecol</span>
|
||
2021 Jun;28(6):1203-1210.
|
||
Epub 2020 Dec 14
|
||
doi: 10.1016/j.jmig.2020.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33321256" target="_blank">33321256</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28371283">Outcomes in patients undergoing robotic reconstructive uterovaginal anastomosis of congenital cervical and vaginal atresia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Chen Y,
|
||
Hua K</span><br />
|
||
<span class="medgenPMjournal">Int J Med Robot</span>
|
||
2017 Sep;13(3)
|
||
Epub 2017 Mar 29
|
||
doi: 10.1002/rcs.1821.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28371283" target="_blank">28371283</a><a href="/pmc/articles/PMC5638055" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25746703">Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pandya KA,
|
||
Koga H,
|
||
Okawada M,
|
||
Coran AG,
|
||
Yamataka A,
|
||
Teitelbaum DH</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Surg</span>
|
||
2015 Mar;50(3):431-7.
|
||
Epub 2014 Oct 1
|
||
doi: 10.1016/j.jpedsurg.2014.07.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25746703" target="_blank">25746703</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7478716">Urinary continence in Müllerian duct anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caione P,
|
||
Silveri M,
|
||
Capitanucci ML,
|
||
Capozza N,
|
||
De Gennaro M</span><br />
|
||
<span class="medgenPMjournal">Panminerva Med</span>
|
||
1995 Mar;37(1):14-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7478716" target="_blank">7478716</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vaginal%20atresia%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 (23)</a></div></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fedele F,
|
||
Parazzini F,
|
||
Vercellini P,
|
||
Bergamini V,
|
||
Fedele L</span><br />
|
||
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
|
||
2023 Sep;308(3):685-700.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1007/s00404-022-06825-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36305896" target="_blank">36305896</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/30106189">Congenital vesicouterine fistulas-A PRISMA-compliant systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jóźwik M,
|
||
Jóźwik M,
|
||
Zaręba K,
|
||
Semczuk A,
|
||
Modzelewska B,
|
||
Jóźwik M</span><br />
|
||
<span class="medgenPMjournal">Neurourol Urodyn</span>
|
||
2018 Nov;37(8):2361-2367.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1002/nau.23795.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30106189" target="_blank">30106189</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/26537987">The presentation and management of complex female genital malformations.</a></div>
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|
||
Acién M</span><br />
|
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<span class="medgenPMjournal">Hum Reprod Update</span>
|
||
2016 Jan-Feb;22(1):48-69.
|
||
Epub 2015 Nov 3
|
||
doi: 10.1093/humupd/dmv048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26537987" target="_blank">26537987</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/25438708">Obstructive reproductive tract anomalies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dietrich JE,
|
||
Millar DM,
|
||
Quint EH</span><br />
|
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<span class="medgenPMjournal">J Pediatr Adolesc Gynecol</span>
|
||
2014 Dec;27(6):396-402.
|
||
Epub 2014 Sep 11
|
||
doi: 10.1016/j.jpag.2014.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25438708" target="_blank">25438708</a></div>
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