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<!--
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UID=340927
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ConceptID=C1855657
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Calvarial osteosclerosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340927</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.">C1855657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><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:0005450">HP:0005450</a></td></tr>
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<div class="portlet_content ln">An increase in bone density affecting the calvaria (roof of the skull). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div 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">Calvarial osteosclerosis</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/746145" ref="tree=MeSH" title="MedGen record for Abnormal facial skeleton morphology">Abnormal facial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892778" ref="tree=MeSH" title="MedGen record for Craniofacial osteosclerosis">Craniofacial osteosclerosis</a></span><ul><li><span class="matched_ds">Calvarial osteosclerosis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<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">
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<div class="divPopper rprt" id="rdis_162924"><div><strong>Pettigrew syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162924</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.">C0796254</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pettigrew syndrome (PGS) is characterized by impaired intellectual development and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families (summary by Cacciagli et al., 2014). See 311510 for another X-linked syndrome with impaired intellectual development and basal ganglia disease (Waisman syndrome). See 220219 for another impaired intellectual development syndrome with Dandy-Walker malformation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162924">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335932"><div><strong>Autosomal dominant osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335932</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.">C1843330</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate (summary by Van Hul et al., 2002). Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335932">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376708"><div><strong>Autosomal recessive osteopetrosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376708</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.">C1850127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive Osteopetrosis Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q21. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21. OPTB9 (620366) is caused by mutation in the SLC4A2 gene (109280) on chromosome 7q36. Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376708">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338945"><div><strong>Craniometaphyseal dysplasia, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338945</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1852502</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338945">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340923"><div><strong>Autosomal recessive Kenny-Caffey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340923</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.">C1855648</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small hands and feet, delayed mental and motor development, intellectual disability, dental anomalies, and dysmorphic features, including prominent forehead, small deep-set eyes, beaked nose, and micrognathia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340923">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897039"><div><strong>Autosomal dominant Robinow syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897039</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.">C4225363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897039">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1638917"><div><strong>Tumoral calcinosis, hyperphosphatemic, familial, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638917</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.">C4693864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone (Chefetz et al., 2005). The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in the FGF23 (605380) or GALNT3 (601756) gene. The term 'hyperostosis-hyperphosphatemia syndrome' (HHS) is sometimes used when the disorder is characterized by involvement of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis. Although some have distinguished HHS from FTC by the presence of bone involvement and the absence of skin involvement (Frishberg et al., 2005), Ichikawa et al. (2010) concluded that the 2 entities represent a continuous spectrum of the same disease, best described as familial hyperphosphatemic tumoral calcinosis. HFTC is considered to be the clinical converse of autosomal dominant hypophosphatemic rickets (ADHR; 193100), an allelic disorder caused by gain-of-function mutations in the FGF23 gene and associated with hypophosphatemia and decreased renal phosphate absorption (Chefetz et al., 2005; Ichikawa et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of HFTC, see 211900.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1638917">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant osteopetrosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Robinow syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340923" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Kenny-Caffey syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive osteopetrosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniometaphyseal dysplasia, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pettigrew syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tumoral calcinosis, hyperphosphatemic, familial, 3</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/32757781">Decompressive Cranial Vault Remodeling in Osteosclerotic Robinow Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herman PI,
|
||
Marji FP,
|
||
Anstadt EE,
|
||
Dvoracek LA,
|
||
Goldstein JA,
|
||
Pollack IF,
|
||
Losee JE</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2021 Jan;58(1):126-130.
|
||
Epub 2020 Aug 6
|
||
doi: 10.1177/1055665620946573.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32757781" target="_blank">32757781</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21456907">Osteopetrosis with Chiari I malformation: presentation and surgical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dlouhy BJ,
|
||
Menezes AH</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2011 Apr;7(4):369-74.
|
||
doi: 10.3171/2011.1.PEDS10353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21456907" target="_blank">21456907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10871023">Cranial MR imaging of osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curé JK,
|
||
Key LL,
|
||
Goltra DD,
|
||
VanTassel P</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2000 Jun-Jul;21(6):1110-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10871023" target="_blank">10871023</a><a href="/pmc/articles/PMC7973881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8827383">Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinow JD,
|
||
Gruss JS,
|
||
Roberts TS,
|
||
Clarren SK,
|
||
Graham CB,
|
||
Mouradian W</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
1996 Jul;33(4):284-90.
|
||
doi: 10.1597/1545-1569_1996_033_0284_iaerof_2.3.co_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8827383" target="_blank">8827383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
|
||
Kemp SS,
|
||
Oh KS</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin North Am</span>
|
||
1991 Mar;29(2):195-218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Calvarial%20osteosclerosis%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/30516566">Systemic Changes Affecting the Morphology of Calvarial Bone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao A,
|
||
Taub JS,
|
||
Gault AT,
|
||
Naidich TP,
|
||
Taub PJ</span><br />
|
||
<span class="medgenPMjournal">J Craniofac Surg</span>
|
||
2019 Jan;30(1):e65-e75.
|
||
doi: 10.1097/SCS.0000000000004991.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30516566" target="_blank">30516566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28762040">Case update on cranial osteopetrosis: which is the role of the neurosurgeon?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stella I,
|
||
Vinchon M,
|
||
Guerreschi P,
|
||
De Berranger E,
|
||
Bouacha I</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2017 Dec;33(12):2181-2186.
|
||
Epub 2017 Jul 31
|
||
doi: 10.1007/s00381-017-3553-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28762040" target="_blank">28762040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11919446">Calvarial sclerosing osteomyelitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klisch J,
|
||
Spreer J,
|
||
Bötefür I,
|
||
Gellrich NC,
|
||
Adler CP,
|
||
Zentner J,
|
||
Schumacher M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurosurg</span>
|
||
2002 Mar;36(3):128-32.
|
||
doi: 10.1159/000048367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11919446" target="_blank">11919446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10871023">Cranial MR imaging of osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curé JK,
|
||
Key LL,
|
||
Goltra DD,
|
||
VanTassel P</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2000 Jun-Jul;21(6):1110-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10871023" target="_blank">10871023</a><a href="/pmc/articles/PMC7973881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
|
||
Kemp SS,
|
||
Oh KS</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin North Am</span>
|
||
1991 Mar;29(2):195-218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Calvarial%20osteosclerosis%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 (8)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/1339119">Osteoclastic superoxide generation: taking control of bone resorption using modulators of superoxide concentrations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Key LL Jr,
|
||
Ries WL,
|
||
Glasscock H,
|
||
Rodriguiz R,
|
||
Jaffe H</span><br />
|
||
<span class="medgenPMjournal">Int J Tissue React</span>
|
||
1992;14(6):295-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1339119" target="_blank">1339119</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Calvarial%20osteosclerosis%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28762040">Case update on cranial osteopetrosis: which is the role of the neurosurgeon?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stella I,
|
||
Vinchon M,
|
||
Guerreschi P,
|
||
De Berranger E,
|
||
Bouacha I</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2017 Dec;33(12):2181-2186.
|
||
Epub 2017 Jul 31
|
||
doi: 10.1007/s00381-017-3553-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28762040" target="_blank">28762040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8827383">Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sinow JD,
|
||
Gruss JS,
|
||
Roberts TS,
|
||
Clarren SK,
|
||
Graham CB,
|
||
Mouradian W</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
1996 Jul;33(4):284-90.
|
||
doi: 10.1597/1545-1569_1996_033_0284_iaerof_2.3.co_2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8827383" target="_blank">8827383</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
|
||
Kemp SS,
|
||
Oh KS</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin North Am</span>
|
||
1991 Mar;29(2):195-218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Calvarial%20osteosclerosis%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39084544">Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whyte MP,
|
||
Weinstein RS,
|
||
Phillips PH,
|
||
McAlister WH,
|
||
Ramakrishnaiah RH,
|
||
Schaefer GB,
|
||
Cai R,
|
||
Hutchison MR,
|
||
Duan S,
|
||
Gottesman GS,
|
||
Mumm S</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2024 Nov;188:117218.
|
||
Epub 2024 Jul 30
|
||
doi: 10.1016/j.bone.2024.117218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39084544" target="_blank">39084544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28762040">Case update on cranial osteopetrosis: which is the role of the neurosurgeon?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stella I,
|
||
Vinchon M,
|
||
Guerreschi P,
|
||
De Berranger E,
|
||
Bouacha I</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2017 Dec;33(12):2181-2186.
|
||
Epub 2017 Jul 31
|
||
doi: 10.1007/s00381-017-3553-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28762040" target="_blank">28762040</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10871023">Cranial MR imaging of osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curé JK,
|
||
Key LL,
|
||
Goltra DD,
|
||
VanTassel P</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2000 Jun-Jul;21(6):1110-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10871023" target="_blank">10871023</a><a href="/pmc/articles/PMC7973881" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1998047">Radiographic manifestations of congenital anomalies of the skull.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan SB,
|
||
Kemp SS,
|
||
Oh KS</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin North Am</span>
|
||
1991 Mar;29(2):195-218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1998047" target="_blank">1998047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/617576">Neurological complications of infantile osteopetrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lehman RA,
|
||
Reeves JD,
|
||
Wilson WB,
|
||
Wesenberg RL</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1977 Nov;2(5):378-84.
|
||
doi: 10.1002/ana.410020506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/617576" target="_blank">617576</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Calvarial%20osteosclerosis%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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