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<!--
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||
UID=347377
|
||
ConceptID=C1857126
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Parietal bossing</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347377</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.">C1857126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Biparietal bossing; Bossing of parietal bone</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000242">HP:0000242</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">Parietal bossing is a marked prominence in the parietal region. [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>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet 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">Parietal bossing</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/488801" ref="tree=MeSH" title="MedGen record for Abnormal skull morphology">Abnormal skull morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871212" ref="tree=MeSH" title="MedGen record for Abnormal calvaria morphology">Abnormal calvaria morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867457" ref="tree=MeSH" title="MedGen record for Abnormal parietal bone morphology">Abnormal parietal bone morphology</a></span><ul><li><span class="matched_ds">Parietal bossing</span></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>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_2554"><div><strong>Gorlin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2554</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.">C0004779</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs), usually from the third decade onward. Many individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in 90% of affected individuals by age 30 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals, respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2554">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_3486"><div><strong>Cleidocranial dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3486</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.">C0008928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal features. Individuals with classic CCD spectrum disorder typically have abnormally large, wide-open fontanelles at birth that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include delayed eruption of secondary dentition, failure to shed the primary teeth, and supernumerary teeth. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper airway obstruction. Intelligence is typically normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3486">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_5414"><div><strong>Hallermann-Streiff syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5414</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.">C0018522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5414">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_140806"><div><strong>Neonatal pseudo-hydrocephalic progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140806</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.">C0406586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140806">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98150"><div><strong>Dysosteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98150</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.">C0432262</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98150">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372134"><div><strong>Holoprosencephaly 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372134</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.">C1835820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372134">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322968"><div><strong>MPDU1-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322968</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.">C1836669</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a discussion of the classification of CDGs, see CDG Ia (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322968">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333068"><div><strong>Toriello-Lacassie-Droste syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333068</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.">C1838329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333068">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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.">C1857663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1631694"><div><strong>LEOPARD syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631694</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.">C4551484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631694">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794324"><div><strong>Chromosome 1p36 deletion syndrome, proximal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794324</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.">C5562114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Proximal 1p36 deletion syndrome is a multisystem developmental disorder characterized by global developmental delay with impaired intellectual development, poor overall growth with microcephaly, axial hypotonia, and dysmorphic facial features. Most patients have congenital cardiac malformations or cardiac dysfunction. Additional more variable features may include distal skeletal anomalies, seizures, and cleft palate. The phenotype shows some overlap with distal chromosome 1p36 deletion syndrome (summary by Kang et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794324">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794324" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p36 deletion syndrome, proximal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleidocranial dysostosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysosteosclerosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_2554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gorlin syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallermann-Streiff syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372134" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LEOPARD syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322968" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MPDU1-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140806" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal pseudo-hydrocephalic progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toriello-Lacassie-Droste syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/8823012">The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang MH,
|
||
Gruss JS,
|
||
Clarren SK,
|
||
Mouradian WE,
|
||
Cunningham ML,
|
||
Roberts TS,
|
||
Loeser JD,
|
||
Cornell CJ</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
1996 Oct;98(5):765-74; discussion 775-6.
|
||
doi: 10.1097/00006534-199610000-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8823012" target="_blank">8823012</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(parietal%20bossing)%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 (1)</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/39183121">Long-term outcomes of nonsyndromic isolated unilateral lambdoid craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng JJ,
|
||
Chang AE,
|
||
Massenburg BB,
|
||
Romeo DJ,
|
||
Wu M,
|
||
Blum JD,
|
||
Swanson JW,
|
||
Taylor JA,
|
||
Bartlett SP</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2024 Nov;52(11):1235-1243.
|
||
Epub 2024 Aug 22
|
||
doi: 10.1016/j.jcms.2024.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39183121" target="_blank">39183121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37198893">Three-dimensional Analysis of Facial Asymmetry in Unilateral Lambdoid Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harrison LM,
|
||
Ferrari EJ,
|
||
Mathew DP,
|
||
Derderian CA,
|
||
Hallac RR</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2024 Oct;61(10):1619-1624.
|
||
Epub 2023 May 17
|
||
doi: 10.1177/10556656231176876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37198893" target="_blank">37198893</a><a href="/pmc/articles/PMC11468102" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21189772">Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balasundram S,
|
||
Kovilpillai FJ,
|
||
Hopper C</span><br />
|
||
<span class="medgenPMjournal">J Clin Pediatr Dent</span>
|
||
2010 Fall;35(1):95-100.
|
||
doi: 10.17796/jcpd.35.1.r7t6t25372830426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21189772" target="_blank">21189772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9257026">Examine your orofacial cleft patients for Gorlin-Goltz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lambrecht JT,
|
||
Kreusch T</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
1997 Jul;34(4):342-50.
|
||
doi: 10.1597/1545-1569_1997_034_0341_eyocpf_2.3.co_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9257026" target="_blank">9257026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9118126">Component bone marker displacements revealed by image-corrected cephalometric analysis. A lateral cephalometric study of the cranium in normal and craniosynostosis--an implant study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spolyar JL,
|
||
Canady A</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1996 Nov;12(11):640-53.
|
||
doi: 10.1007/BF00366146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9118126" target="_blank">9118126</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20bossing%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37198893">Three-dimensional Analysis of Facial Asymmetry in Unilateral Lambdoid Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harrison LM,
|
||
Ferrari EJ,
|
||
Mathew DP,
|
||
Derderian CA,
|
||
Hallac RR</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2024 Oct;61(10):1619-1624.
|
||
Epub 2023 May 17
|
||
doi: 10.1177/10556656231176876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37198893" target="_blank">37198893</a><a href="/pmc/articles/PMC11468102" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27107679">Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ponti G,
|
||
Manfredini M,
|
||
Ruini C</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2016 Sep 10;589(2):151-6.
|
||
Epub 2016 Apr 20
|
||
doi: 10.1016/j.gene.2016.04.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27107679" target="_blank">27107679</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24728485">Major clinical features of synostotic occipital plagiocephaly: mechanisms of cranial deformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matushita H,
|
||
Alonso N,
|
||
Cardeal DD,
|
||
Andrade FG</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2014 Jul;30(7):1217-24.
|
||
Epub 2014 Apr 12
|
||
doi: 10.1007/s00381-014-2414-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24728485" target="_blank">24728485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12687661">Holt-Oram syndrome: is there a "face"?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allanson JE,
|
||
Newbury-Ecob RA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2003 May 1;118A(4):314-8.
|
||
doi: 10.1002/ajmg.a.10214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12687661" target="_blank">12687661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9693555">Unilateral lambdoid synostosis: morphological characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menard RM,
|
||
David DJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
1998 May;9(3):240-6.
|
||
doi: 10.1097/00001665-199805000-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9693555" target="_blank">9693555</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20bossing%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39183121">Long-term outcomes of nonsyndromic isolated unilateral lambdoid craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng JJ,
|
||
Chang AE,
|
||
Massenburg BB,
|
||
Romeo DJ,
|
||
Wu M,
|
||
Blum JD,
|
||
Swanson JW,
|
||
Taylor JA,
|
||
Bartlett SP</span><br />
|
||
<span class="medgenPMjournal">J Craniomaxillofac Surg</span>
|
||
2024 Nov;52(11):1235-1243.
|
||
Epub 2024 Aug 22
|
||
doi: 10.1016/j.jcms.2024.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39183121" target="_blank">39183121</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35229282">A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salah A,
|
||
Almannai M,
|
||
Al Ojaimi M,
|
||
Radefeldt M,
|
||
Gulati N,
|
||
Iqbal M,
|
||
Alawbathani S,
|
||
Al-Ali R,
|
||
Beetz C,
|
||
El-Hattab AW</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 May;101(5-6):565-570.
|
||
Epub 2022 Mar 13
|
||
doi: 10.1111/cge.14126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35229282" target="_blank">35229282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21189772">Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balasundram S,
|
||
Kovilpillai FJ,
|
||
Hopper C</span><br />
|
||
<span class="medgenPMjournal">J Clin Pediatr Dent</span>
|
||
2010 Fall;35(1):95-100.
|
||
doi: 10.17796/jcpd.35.1.r7t6t25372830426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21189772" target="_blank">21189772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9257026">Examine your orofacial cleft patients for Gorlin-Goltz syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lambrecht JT,
|
||
Kreusch T</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
1997 Jul;34(4):342-50.
|
||
doi: 10.1597/1545-1569_1997_034_0341_eyocpf_2.3.co_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9257026" target="_blank">9257026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9118126">Component bone marker displacements revealed by image-corrected cephalometric analysis. A lateral cephalometric study of the cranium in normal and craniosynostosis--an implant study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spolyar JL,
|
||
Canady A</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1996 Nov;12(11):640-53.
|
||
doi: 10.1007/BF00366146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9118126" target="_blank">9118126</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20bossing%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35229282">A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salah A,
|
||
Almannai M,
|
||
Al Ojaimi M,
|
||
Radefeldt M,
|
||
Gulati N,
|
||
Iqbal M,
|
||
Alawbathani S,
|
||
Al-Ali R,
|
||
Beetz C,
|
||
El-Hattab AW</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 May;101(5-6):565-570.
|
||
Epub 2022 Mar 13
|
||
doi: 10.1111/cge.14126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35229282" target="_blank">35229282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29521748">Delayed Diagnosis of Gorlin-Goltz Syndrome: The Importance of the Multidisciplinary Approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Figueira JA,
|
||
Batista FRS,
|
||
Rosso K,
|
||
Veltrini VC,
|
||
Pavan AJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2018 Sep;29(6):e530-e531.
|
||
doi: 10.1097/SCS.0000000000004438.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29521748" target="_blank">29521748</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9118126">Component bone marker displacements revealed by image-corrected cephalometric analysis. A lateral cephalometric study of the cranium in normal and craniosynostosis--an implant study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spolyar JL,
|
||
Canady A</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1996 Nov;12(11):640-53.
|
||
doi: 10.1007/BF00366146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9118126" target="_blank">9118126</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Parietal%20bossing%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 (3)</a></div></div>
|
||
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|
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