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<!--
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||
UID=7538
|
||
ConceptID=C0025312
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myelomeningocele</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7538</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.">C0025312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Meningomyelocele; Meningomyeloceles; Myelomeningoceles</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Meningomyelocele (414667000); Myelomeningocele (414667000); Hydromyelomeningocele (414667000); Hydromeningomyelocele (414667000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_109109"><div><strong>Non-Mendelian inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109109</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.">C0600599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that depends on genetic determinants in more than one gene.</div></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_109109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-Mendelian inheritance</a><span> (Orphanet)</span></div>
|
||
<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:0002475">HP:0002475</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019773" target="_blank">MONDO:0019773</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=93969">ORPHA93969</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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">Myelomeningocele</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1620065" ref="tree=MeSH" title="MedGen record for Abnormal neural tube morphology">Abnormal neural tube morphology</a></span><ul><li><span class="TLline"><a href="/medgen/18009" ref="tree=MeSH" title="MedGen record for Neural tube defect">Neural tube defect</a></span><ul><li><span class="matched_ds">Myelomeningocele</span><ul><li><span class="TLline"><a href="/medgen/760704" ref="tree=MeSH" title="MedGen record for Cervical meningomyelocele">Cervical meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798909" ref="tree=MeSH" title="MedGen record for Cervical spina bifida cystica">Cervical spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/797823" ref="tree=MeSH" title="MedGen record for Cervicothoracic spina bifida cystica">Cervicothoracic spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/760702" ref="tree=MeSH" title="MedGen record for Lumbar meningomyelocele">Lumbar meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/799730" ref="tree=MeSH" title="MedGen record for Lumbosacral spina bifida cystica">Lumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/101069" ref="tree=MeSH" title="MedGen record for Sacral meningocele">Sacral meningocele</a></span><ul><li><span class="TLline"><a href="/medgen/401299" ref="tree=MeSH" title="MedGen record for Anterior sacral meningocele">Anterior sacral meningocele</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760703" ref="tree=MeSH" title="MedGen record for Thoracic meningomyelocele">Thoracic meningomyelocele</a></span></li><li><span class="TLline"><a href="/medgen/798744" ref="tree=MeSH" title="MedGen record for Thoracolumbosacral spina bifida cystica">Thoracolumbosacral spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/798852" ref="tree=MeSH" title="MedGen record for Total spina bifida cystica">Total spina bifida cystica</a></span></li><li><span class="TLline"><a href="/medgen/799069" ref="tree=MeSH" title="MedGen record for Upper thoracic spina bifida cystica">Upper thoracic spina bifida cystica</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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_42055"><div><strong>Focal dermal hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42055</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.">C0016395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PORCN-related developmental disorders include a spectrum of highly variable multisystem disorders caused by developmental abnormalities in mesodermal and ectodermal structures primarily involving the skin, limbs, eyes, and face. The manifestations vary among affected individuals, and many have only a subset of the characteristic features. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucous papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo- and syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, pointed chin, and small, underfolded pinnae. Dental anomalies can include hypodontia, enamel defects, and/or abnormally shaped teeth. Occasional findings include abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment and/or behavioral issues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42055">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_108222"><div><strong>Chiari type II malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108222</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.">C0555206</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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||
<div class="spaceAbove">Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/108222">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_307142"><div><strong>Orofaciodigital syndrome I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>307142</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.">C1510460</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oral-facial-digital syndrome type I (OFD1) is usually male lethal during gestation and predominantly affects females. OFD1 is characterized by the following: oral features (lobulated tongue, tongue nodules, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities); facial features (widely spaced eyes, telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft of the upper lip, micrognathia); digital features (brachydactyly, syndactyly, clinodactyly of the fifth finger, duplicated great toe); polycystic kidney disease; brain MRI findings (intracerebral cysts, agenesis of the corpus callosum, cerebellar agenesis with or without Dandy-Walker malformation); and intellectual disability (in approximately 50% of affected individuals).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/307142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325455"><div><strong>Sacral defect with anterior meningocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325455</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.">C1838568</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325455">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336609"><div><strong>Heterotaxy, visceral, 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336609</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.">C1844020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11; HTX13 (621079), caused by mutation in the DAND5 gene (609068) on chromosome 19p13; and HTX14 (621080), caused by mutation in the CIROZ gene (619700) on chromosome 1p36. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336609">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376211"><div><strong>Waardenburg syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376211</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.">C1847800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/376211">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338020"><div><strong>Exstrophy-epispadias complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338020</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.">C1850321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338020">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383853"><div><strong>Isolated hemihyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383853</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.">C1856184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006). Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900). Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/383853">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_462292"><div><strong>Spondylocostal dysostosis 4, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462292</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.">C3150942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe disease may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development. In severely affected individuals with restricted pulmonary capacity, there is a possibility that pulmonary hypertension may eventually impact cardiac function. Males with SCDO appear to be at increased risk for inguinal hernia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462292">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_856010"><div><strong>Neural tube defects, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856010</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.">C3891448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see 206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/856010">Condition Record</a></div></div>
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<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>
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<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>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1639061">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824035"><div><strong>Developmental delay, language impairment, and ocular abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824035</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.">C5774262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Developmental delay, language impairment, and ocular abnormalities (DEVLO) is characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Most affected individuals also have a small head circumference (down to -3 SD) and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. Older patients require special schooling and often demonstrate behavioral abnormalities (Laboy Cintron et al., 2022).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824035">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1848300"><div><strong>Tan-Almurshedi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848300</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.">C5882727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features (Westrip et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1848300">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_108222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chiari type II malformation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824035" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, language impairment, and ocular abnormalities</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exstrophy-epispadias complex</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42055" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal dermal hypoplasia</a></div>
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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><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', 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_336609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 1, X-linked</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated hemihyperplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_856010" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neural tube defects, susceptibility to</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_307142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome I</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325455" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sacral defect with anterior meningocele</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylocostal dysostosis 4, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848300" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tan-Almurshedi syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 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/35868728">Diagnosis and Surgical Management of Neonatal Hydrocephalus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pindrik J,
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Schulz L,
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Drapeau A</span><br />
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<span class="medgenPMjournal">Semin Pediatr Neurol</span>
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2022 Jul;42:100969.
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Epub 2022 Apr 8
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doi: 10.1016/j.spen.2022.100969.
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<span class="bold">PMID: </span><a href="/pubmed/35868728" target="_blank">35868728</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34033426">Update on prenatal diagnosis and fetal surgery for myelomeningocele.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Meller C,
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Covini D,
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Aiello H,
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Izbizky G,
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Portillo Medina S,
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Otaño L</span><br />
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<span class="medgenPMjournal">Arch Argent Pediatr</span>
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2021 Jun;119(3):e215-e228.
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doi: 10.5546/aap.2021.eng.e215.
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||
<span class="bold">PMID: </span><a href="/pubmed/34033426" target="_blank">34033426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28734746">Spina Bifida Management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Phillips LA,
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Burton JM,
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Evans SH</span><br />
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<span class="medgenPMjournal">Curr Probl Pediatr Adolesc Health Care</span>
|
||
2017 Jul;47(7):173-177.
|
||
Epub 2017 Jul 19
|
||
doi: 10.1016/j.cppeds.2017.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28734746" target="_blank">28734746</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22myelomeningocele%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 (248)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/cg148" target="_blank">UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023</a></h3>
|
||
</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/35102990">Hydrocephalus in Spina Bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blount JP,
|
||
Maleknia P,
|
||
Hopson BD,
|
||
Rocque BG,
|
||
Oakes WJ</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2021 Nov-Dec;69(Supplement):S367-S371.
|
||
doi: 10.4103/0028-3886.332247.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35102990" target="_blank">35102990</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34518383">Arnold-Chiari Malformation: Core Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fons K,
|
||
Jnah AJ</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2021 Aug 1;40(5):313-320.
|
||
doi: 10.1891/11-T-704.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34518383" target="_blank">34518383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34033426">Update on prenatal diagnosis and fetal surgery for myelomeningocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meller C,
|
||
Covini D,
|
||
Aiello H,
|
||
Izbizky G,
|
||
Portillo Medina S,
|
||
Otaño L</span><br />
|
||
<span class="medgenPMjournal">Arch Argent Pediatr</span>
|
||
2021 Jun;119(3):e215-e228.
|
||
doi: 10.5546/aap.2021.eng.e215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34033426" target="_blank">34033426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28547209">Anesthesia for myelomeningocele surgery in fetus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Devoto JC,
|
||
Alcalde JL,
|
||
Otayza F,
|
||
Sepulveda W</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2017 Jul;33(7):1169-1175.
|
||
Epub 2017 May 25
|
||
doi: 10.1007/s00381-017-3437-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28547209" target="_blank">28547209</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14533893">Intrauterine myelomeningocele repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tulipan N</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2003 Sep;30(3):521-30.
|
||
doi: 10.1016/s0095-5108(03)00048-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14533893" target="_blank">14533893</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelomeningocele%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 (1872)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34033426">Update on prenatal diagnosis and fetal surgery for myelomeningocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meller C,
|
||
Covini D,
|
||
Aiello H,
|
||
Izbizky G,
|
||
Portillo Medina S,
|
||
Otaño L</span><br />
|
||
<span class="medgenPMjournal">Arch Argent Pediatr</span>
|
||
2021 Jun;119(3):e215-e228.
|
||
doi: 10.5546/aap.2021.eng.e215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34033426" target="_blank">34033426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31779836">Pediatric Neuromuscular Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michel C,
|
||
Collins C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2020 Feb;67(1):45-57.
|
||
doi: 10.1016/j.pcl.2019.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31779836" target="_blank">31779836</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31451171">Fetal myelomeningocele repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamashiro KJ,
|
||
Galganski LA,
|
||
Hirose S</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2019 Aug;28(4):150823.
|
||
Epub 2019 Jul 18
|
||
doi: 10.1053/j.sempedsurg.2019.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31451171" target="_blank">31451171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27189655">Spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Copp AJ,
|
||
Adzick NS,
|
||
Chitty LS,
|
||
Fletcher JM,
|
||
Holmbeck GN,
|
||
Shaw GM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2015 Apr 30;1:15007.
|
||
doi: 10.1038/nrdp.2015.7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27189655" target="_blank">27189655</a><a href="/pmc/articles/PMC4898641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21041422">Myelomeningocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liptak GS,
|
||
Dosa NP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2010 Nov;31(11):443-50.
|
||
doi: 10.1542/pir.31-11-443.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21041422" target="_blank">21041422</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelomeningocele%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 (1041)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36328602">Fetal Repair of Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
|
||
Papanna R,
|
||
Farmer D,
|
||
Tsao K</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2022 Dec;49(4):835-848.
|
||
Epub 2022 Oct 9
|
||
doi: 10.1016/j.clp.2022.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36328602" target="_blank">36328602</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27189655">Spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Copp AJ,
|
||
Adzick NS,
|
||
Chitty LS,
|
||
Fletcher JM,
|
||
Holmbeck GN,
|
||
Shaw GM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2015 Apr 30;1:15007.
|
||
doi: 10.1038/nrdp.2015.7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27189655" target="_blank">27189655</a><a href="/pmc/articles/PMC4898641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25171425">Fetal myelomeningocele closure: technical considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heuer GG,
|
||
Adzick NS,
|
||
Sutton LN</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2015;37(3):166-71.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1159/000363182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25171425" target="_blank">25171425</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24120287">Fetal surgery for neural tube defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danzer E,
|
||
Johnson MP</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2014 Feb;19(1):2-8.
|
||
Epub 2013 Oct 8
|
||
doi: 10.1016/j.siny.2013.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24120287" target="_blank">24120287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22682379">Fetal surgery for myelomeningocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saadai P,
|
||
Farmer DL</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2012 Jun;39(2):279-88.
|
||
Epub 2012 May 15
|
||
doi: 10.1016/j.clp.2012.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22682379" target="_blank">22682379</a><a href="/pmc/articles/PMC3390415" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelomeningocele%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 (725)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34089698">Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanz Cortes M,
|
||
Chmait RH,
|
||
Lapa DA,
|
||
Belfort MA,
|
||
Carreras E,
|
||
Miller JL,
|
||
Brawura Biskupski Samaha R,
|
||
Sepulveda Gonzalez G,
|
||
Gielchinsky Y,
|
||
Yamamoto M,
|
||
Persico N,
|
||
Santorum M,
|
||
Otaño L,
|
||
Nicolaou E,
|
||
Yinon Y,
|
||
Faig-Leite F,
|
||
Brandt R,
|
||
Whitehead W,
|
||
Maiz N,
|
||
Baschat A,
|
||
Kosinski P,
|
||
Nieto-Sanjuanero A,
|
||
Chu J,
|
||
Kershenovich A,
|
||
Nicolaides KH</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2021 Dec;225(6):678.e1-678.e11.
|
||
Epub 2021 Jun 3
|
||
doi: 10.1016/j.ajog.2021.05.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34089698" target="_blank">34089698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31179670">The perinatal revolution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malloy C,
|
||
Wubbenhorst MC,
|
||
Lee TS</span><br />
|
||
<span class="medgenPMjournal">Issues Law Med</span>
|
||
2019 Spring;34(1):15-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31179670" target="_blank">31179670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29246577">The Management of Myelomeningocele Study: full cohort 30-month pediatric outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farmer DL,
|
||
Thom EA,
|
||
Brock JW 3rd,
|
||
Burrows PK,
|
||
Johnson MP,
|
||
Howell LJ,
|
||
Farrell JA,
|
||
Gupta N,
|
||
Adzick NS;
|
||
Management of Myelomeningocele Study Investigators</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2018 Feb;218(2):256.e1-256.e13.
|
||
Epub 2017 Dec 12
|
||
doi: 10.1016/j.ajog.2017.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29246577" target="_blank">29246577</a><a href="/pmc/articles/PMC7737375" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25155738">Neuropathic bladder in the neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carr MC</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2014 Sep;41(3):725-33.
|
||
Epub 2014 Jul 18
|
||
doi: 10.1016/j.clp.2014.05.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25155738" target="_blank">25155738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21306277">A randomized trial of prenatal versus postnatal repair of myelomeningocele.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adzick NS,
|
||
Thom EA,
|
||
Spong CY,
|
||
Brock JW 3rd,
|
||
Burrows PK,
|
||
Johnson MP,
|
||
Howell LJ,
|
||
Farrell JA,
|
||
Dabrowiak ME,
|
||
Sutton LN,
|
||
Gupta N,
|
||
Tulipan NB,
|
||
D'Alton ME,
|
||
Farmer DL;
|
||
MOMS Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2011 Mar 17;364(11):993-1004.
|
||
Epub 2011 Feb 9
|
||
doi: 10.1056/NEJMoa1014379.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21306277" target="_blank">21306277</a><a href="/pmc/articles/PMC3770179" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelomeningocele%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 (950)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34089698">Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanz Cortes M,
|
||
Chmait RH,
|
||
Lapa DA,
|
||
Belfort MA,
|
||
Carreras E,
|
||
Miller JL,
|
||
Brawura Biskupski Samaha R,
|
||
Sepulveda Gonzalez G,
|
||
Gielchinsky Y,
|
||
Yamamoto M,
|
||
Persico N,
|
||
Santorum M,
|
||
Otaño L,
|
||
Nicolaou E,
|
||
Yinon Y,
|
||
Faig-Leite F,
|
||
Brandt R,
|
||
Whitehead W,
|
||
Maiz N,
|
||
Baschat A,
|
||
Kosinski P,
|
||
Nieto-Sanjuanero A,
|
||
Chu J,
|
||
Kershenovich A,
|
||
Nicolaides KH</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2021 Dec;225(6):678.e1-678.e11.
|
||
Epub 2021 Jun 3
|
||
doi: 10.1016/j.ajog.2021.05.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34089698" target="_blank">34089698</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33555337">Prenatal Repair and Physical Functioning Among Children With Myelomeningocele: A Secondary Analysis of a Randomized Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Houtrow AJ,
|
||
MacPherson C,
|
||
Jackson-Coty J,
|
||
Rivera M,
|
||
Flynn L,
|
||
Burrows PK,
|
||
Adzick NS,
|
||
Fletcher J,
|
||
Gupta N,
|
||
Howell LJ,
|
||
Brock JW 3rd,
|
||
Lee H,
|
||
Walker WO,
|
||
Thom EA</span><br />
|
||
<span class="medgenPMjournal">JAMA Pediatr</span>
|
||
2021 Apr 1;175(4):e205674.
|
||
Epub 2021 Apr 5
|
||
doi: 10.1001/jamapediatrics.2020.5674.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33555337" target="_blank">33555337</a><a href="/pmc/articles/PMC7871205" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32423763">Closing in on Mechanisms of Open Neural Tube Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee S,
|
||
Gleeson JG</span><br />
|
||
<span class="medgenPMjournal">Trends Neurosci</span>
|
||
2020 Jul;43(7):519-532.
|
||
Epub 2020 May 15
|
||
doi: 10.1016/j.tins.2020.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32423763" target="_blank">32423763</a><a href="/pmc/articles/PMC7321880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29246577">The Management of Myelomeningocele Study: full cohort 30-month pediatric outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farmer DL,
|
||
Thom EA,
|
||
Brock JW 3rd,
|
||
Burrows PK,
|
||
Johnson MP,
|
||
Howell LJ,
|
||
Farrell JA,
|
||
Gupta N,
|
||
Adzick NS;
|
||
Management of Myelomeningocele Study Investigators</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2018 Feb;218(2):256.e1-256.e13.
|
||
Epub 2017 Dec 12
|
||
doi: 10.1016/j.ajog.2017.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29246577" target="_blank">29246577</a><a href="/pmc/articles/PMC7737375" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21928023">Fetal hydrocephalus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavalheiro S,
|
||
Moron AF,
|
||
Almodin CG,
|
||
Suriano IC,
|
||
Hisaba V,
|
||
Dastoli P,
|
||
Barbosa MM</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2011 Oct;27(10):1575-83.
|
||
Epub 2011 Sep 17
|
||
doi: 10.1007/s00381-011-1539-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21928023" target="_blank">21928023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelomeningocele%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 (779)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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/32536242">Association of Fetal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects: A Systematic Review and Update Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabatabaei RS,
|
||
Fatahi-Meibodi N,
|
||
Meibodi B,
|
||
Javaheri A,
|
||
Abbasi H,
|
||
Hadadan A,
|
||
Bahrami R,
|
||
Mirjalili SR,
|
||
Karimi-Zarchi M,
|
||
Neamatzadeh H</span><br />
|
||
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
|
||
2022 Apr;41(2):225-241.
|
||
Epub 2020 Jun 14
|
||
doi: 10.1080/15513815.2020.1775734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32536242" target="_blank">32536242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32980287">Self-management and spina bifida: A systematic review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sawin KJ,
|
||
Margolis RHF,
|
||
Ridosh MM,
|
||
Bellin MH,
|
||
Woodward J,
|
||
Brei TJ,
|
||
Logan LR</span><br />
|
||
<span class="medgenPMjournal">Disabil Health J</span>
|
||
2021 Jan;14(1):100940.
|
||
Epub 2020 May 16
|
||
doi: 10.1016/j.dhjo.2020.100940.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32980287" target="_blank">32980287</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31982364">Pediatric Neurogenic Bladder and Bowel Dysfunction: Will My Child Ever Be out of Diapers?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston AW,
|
||
Wiener JS,
|
||
Todd Purves J</span><br />
|
||
<span class="medgenPMjournal">Eur Urol Focus</span>
|
||
2020 Sep 15;6(5):838-867.
|
||
Epub 2020 Jan 22
|
||
doi: 10.1016/j.euf.2020.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31982364" target="_blank">31982364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31574479">Myelomeningocele-associated hydrocephalus: nationwide analysis and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCarthy DJ,
|
||
Sheinberg DL,
|
||
Luther E,
|
||
McCrea HJ</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2019 Oct 1;47(4):E5.
|
||
doi: 10.3171/2019.7.FOCUS19469.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31574479" target="_blank">31574479</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21918421">Safety of efavirenz in the first trimester of pregnancy: an updated systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ford N,
|
||
Calmy A,
|
||
Mofenson L</span><br />
|
||
<span class="medgenPMjournal">AIDS</span>
|
||
2011 Nov 28;25(18):2301-4.
|
||
doi: 10.1097/QAD.0b013e32834cdb71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21918421" target="_blank">21918421</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myelomeningocele%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 (57)</a></div></div>
|
||
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|
||
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|
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|
||
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|
||
<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=93969" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Myelomeningocele" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22myelomeningocele%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Myelomeningocele%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/cg148">NICE, 2023</a><div>UK NICE Clinical guideline (CG148), Urinary incontinence in neurological disease: assessment and management, 2023</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4eb3067c23b31e0e1bdb5">Myelomeningocele</a>
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