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<meta name="keywords" content="C0265513, congenital abnormality, osteopathia striata, voorhoeve's disease, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=75574
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ConceptID=C0265513
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Osteopathia striata</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75574</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.">C0265513</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Voorhoeve's disease</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Osteopathia striata (82663009); Voorhoeve's disease (82663009)</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:0010740">HP:0010740</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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">Osteopathia striata</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/868758" ref="tree=MeSH" title="MedGen record for Abnormal appendicular skeleton morphology">Abnormal appendicular skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866811" ref="tree=MeSH" title="MedGen record for Abnormal long bone morphology">Abnormal long bone morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871326" ref="tree=MeSH" title="MedGen record for Abnormal metaphysis morphology">Abnormal metaphysis morphology</a></span><ul><li><span class="TLline"><a href="/medgen/376512" ref="tree=MeSH" title="MedGen record for Metaphyseal striations">Metaphyseal striations</a></span><ul><li><span class="matched_ds">Osteopathia striata</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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_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."><span class="highlight" style="background-color:">C0016395</span></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_96590"><div><strong>Osteopathia striata with cranial sclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96590</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.">C0432268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most females with osteopathia striata with cranial sclerosis (OS-CS) present with macrocephaly and characteristic facial features (frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge, and prominent jaw). Approximately half have associated features including orofacial clefting and hearing loss, and a minority have some degree of developmental delay (usually mild). Radiographic findings of cranial sclerosis, sclerosis of long bones, and metaphyseal striations (in combination with macrocephaly) can be considered pathognomonic. Males can present with a mild or severe phenotype. Mildly affected males have clinical features similar to affected females, including macrocephaly, characteristic facial features, orofacial clefting, hearing loss, and mild-to-moderate learning delays. Mildly affected males are more likely than females to have congenital or musculoskeletal anomalies. Radiographic findings include cranial sclerosis and sclerosis of the long bones; Metaphyseal striations are more common in males who are mosaic for an AMER1 pathogenic variant. The severe phenotype manifests in males as a multiple-malformation syndrome, lethal in mid-to-late gestation, or in the neonatal period. Congenital malformations include skeletal defects (e.g., polysyndactyly, absent or hypoplastic fibulae), congenital heart disease, and brain, genitourinary, and gastrointestinal anomalies. Macrocephaly is not always present and longitudinal metaphyseal striations have not been observed in severely affected males, except for those who are mosaic for the AMER1 pathogenic variant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96590">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778114"><div><strong>Martsolf syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778114</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.">C5542298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778114">Condition Record</a></div></div>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Martsolf syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopathia striata with cranial sclerosis</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/27369646">First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fradin M,
|
||
Collet C,
|
||
Ract I,
|
||
Odent S,
|
||
Guggenbuhl P</span><br />
|
||
<span class="medgenPMjournal">Joint Bone Spine</span>
|
||
2017 Jan;84(1):87-90.
|
||
Epub 2016 Jun 28
|
||
doi: 10.1016/j.jbspin.2016.04.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27369646" target="_blank">27369646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22670894">Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holman SK,
|
||
Morgan T,
|
||
Baujat G,
|
||
Cormier-Daire V,
|
||
Cho TJ,
|
||
Lees M,
|
||
Samanich J,
|
||
Tapon D,
|
||
Hove HD,
|
||
Hing A,
|
||
Hennekam R,
|
||
Robertson SP</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2013 Mar;83(3):251-6.
|
||
Epub 2012 Jul 5
|
||
doi: 10.1111/j.1399-0004.2012.01905.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22670894" target="_blank">22670894</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17558457">Osteopathia striata with cranial sclerosis and lumbar spinal stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deniz FE,
|
||
Köseoğlu RD</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2007 Aug;149(8):811-5; discussion 815.
|
||
Epub 2007 Jun 8
|
||
doi: 10.1007/s00701-007-1182-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17558457" target="_blank">17558457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12161743">Conductive hearing loss in osteopathia striata-cranial sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berenholz L,
|
||
Lippy W,
|
||
Harrell M</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2002 Jul;127(1):124-6.
|
||
doi: 10.1067/mhn.2002.124852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12161743" target="_blank">12161743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10997431">Sclerosing bone dysplasias: genetic and radioclinical features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanhoenacker FM,
|
||
De Beuckeleer LH,
|
||
Van Hul W,
|
||
Balemans W,
|
||
Tan GJ,
|
||
Hill SC,
|
||
De Schepper AM</span><br />
|
||
<span class="medgenPMjournal">Eur Radiol</span>
|
||
2000;10(9):1423-33.
|
||
doi: 10.1007/s003300000495.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10997431" target="_blank">10997431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteopathia%20striata%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31653668">A curious case of bony streaks and stripes due to osteopathia striata.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sridharan K,
|
||
Cherian KE,
|
||
Kapoor N,
|
||
Paul TV</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
2020 Apr;96(1134):238.
|
||
Epub 2019 Oct 25
|
||
doi: 10.1136/postgradmedj-2019-136936.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31653668" target="_blank">31653668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25284440">Prenatal diagnosis of osteopathia striata with cranial sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vasiljevic A,
|
||
Azzi C,
|
||
Lacalm A,
|
||
Combourieu D,
|
||
Collardeau-Frachon S,
|
||
Dijoud F,
|
||
Massardier J,
|
||
Van Hul W,
|
||
Fromageoux C,
|
||
Guibaud L,
|
||
Gaucherand P,
|
||
Cordier MP,
|
||
Massoud M</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2015 Mar;35(3):302-4.
|
||
Epub 2014 Nov 26
|
||
doi: 10.1002/pd.4513.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25284440" target="_blank">25284440</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16119734">The case: your diagnosis? Osteopoikilosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waddell C,
|
||
Demos TC,
|
||
Lomasney L,
|
||
McCarthy R</span><br />
|
||
<span class="medgenPMjournal">Orthopedics</span>
|
||
2005 Aug;28(8):720, 801-4.
|
||
doi: 10.3928/0147-7447-20050801-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16119734" target="_blank">16119734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/893523">Osteopathia striata revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carlson DH</span><br />
|
||
<span class="medgenPMjournal">J Can Assoc Radiol</span>
|
||
1977 Sep;28(3):190-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/893523" target="_blank">893523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5676836">Disseminated asymptomatic osteosclerosis with features resembling melorheostosis, osteopoikilosis, and osteopathia striata. Case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abrahamson MN</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
|
||
1968 Jul;50(5):991-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5676836" target="_blank">5676836</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteopathia%20striata%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 (57)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27068044">Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katsevman GA,
|
||
Turner RC,
|
||
Lucke-Wold BP,
|
||
Sedney CL,
|
||
Bhatia S</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2016 Jun;158(6):1115-20.
|
||
Epub 2016 Apr 11
|
||
doi: 10.1007/s00701-016-2794-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27068044" target="_blank">27068044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14577672">Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rott HD,
|
||
Krieg P,
|
||
Rütschle H,
|
||
Kraus C</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2003;14(3):281-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14577672" target="_blank">14577672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11807859">Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viot G,
|
||
Lacombe D,
|
||
David A,
|
||
Mathieu M,
|
||
de Broca A,
|
||
Faivre L,
|
||
Gigarel N,
|
||
Munnich A,
|
||
Lyonnet S,
|
||
Le Merrer M,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2002 Jan 1;107(1):1-4.
|
||
doi: 10.1002/ajmg.10028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11807859" target="_blank">11807859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11512010">Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kondoh T,
|
||
Yoshinaga M,
|
||
Matsumoto T,
|
||
Takayanagi T,
|
||
Uetani M,
|
||
Kubota T,
|
||
Nishimura G,
|
||
Moriuchi H</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2001 Sep;31(9):659-62.
|
||
doi: 10.1007/s002470100486.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11512010" target="_blank">11512010</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteopathia%20striata%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28390856">A Case Study of a Preadolescent With Osteopathia Striata With Cranial Sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng DW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Health Care</span>
|
||
2017 Jul-Aug;31(4):511-516.
|
||
Epub 2017 Apr 5
|
||
doi: 10.1016/j.pedhc.2017.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28390856" target="_blank">28390856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17558457">Osteopathia striata with cranial sclerosis and lumbar spinal stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deniz FE,
|
||
Köseoğlu RD</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
2007 Aug;149(8):811-5; discussion 815.
|
||
Epub 2007 Jun 8
|
||
doi: 10.1007/s00701-007-1182-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17558457" target="_blank">17558457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12161743">Conductive hearing loss in osteopathia striata-cranial sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berenholz L,
|
||
Lippy W,
|
||
Harrell M</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
|
||
2002 Jul;127(1):124-6.
|
||
doi: 10.1067/mhn.2002.124852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12161743" target="_blank">12161743</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6303664">Osteopathia striata with cranial sclerosis. Report of a case and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Keyser J,
|
||
Bruyland M,
|
||
De Greve J,
|
||
Leemans J,
|
||
Potvliege R,
|
||
Six R,
|
||
Ebinger G</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
1983;85(1):41-8.
|
||
doi: 10.1016/0303-8467(83)90022-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6303664" target="_blank">6303664</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4641188">Osseous changes of osteopathia striata and Pyle's disease occurring in a patient with an 11 year follow-up. A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Culver GJ,
|
||
Thumasathit C</span><br />
|
||
<span class="medgenPMjournal">Am J Roentgenol Radium Ther Nucl Med</span>
|
||
1972 Nov;116(3):640-3.
|
||
doi: 10.2214/ajr.116.3.640.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4641188" target="_blank">4641188</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteopathia%20striata%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38801192">Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu-El-Haija A,
|
||
Dillahunt K,
|
||
Safina N,
|
||
Aldeeri A,
|
||
Glavan T,
|
||
Mihalek I,
|
||
Shinawi M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Oct;194(10):e63709.
|
||
Epub 2024 May 27
|
||
doi: 10.1002/ajmg.a.63709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38801192" target="_blank">38801192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26886897">Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Byrne JJ,
|
||
Phelan E,
|
||
Steenackers E,
|
||
van Hul W,
|
||
Reardon W</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2016 Apr;25(2):45-9.
|
||
doi: 10.1097/MCD.0000000000000116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26886897" target="_blank">26886897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22670894">Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holman SK,
|
||
Morgan T,
|
||
Baujat G,
|
||
Cormier-Daire V,
|
||
Cho TJ,
|
||
Lees M,
|
||
Samanich J,
|
||
Tapon D,
|
||
Hove HD,
|
||
Hing A,
|
||
Hennekam R,
|
||
Robertson SP</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2013 Mar;83(3):251-6.
|
||
Epub 2012 Jul 5
|
||
doi: 10.1111/j.1399-0004.2012.01905.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22670894" target="_blank">22670894</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22043478">The male phenotype in osteopathia striata congenita with cranial sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holman SK,
|
||
Daniel P,
|
||
Jenkins ZA,
|
||
Herron RL,
|
||
Morgan T,
|
||
Savarirayan R,
|
||
Chow CW,
|
||
Bohring A,
|
||
Mosel A,
|
||
Lacombe D,
|
||
Steiner B,
|
||
Schmitt-Mechelke T,
|
||
Schroter B,
|
||
Raas-Rothschild A,
|
||
Miñaur SG,
|
||
Porteous M,
|
||
Parker M,
|
||
Quarrell O,
|
||
Tapon D,
|
||
Cormier-Daire V,
|
||
Mansour S,
|
||
Nash R,
|
||
Bindoff LA,
|
||
Fiskerstrand T,
|
||
Robertson SP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2011 Oct;155A(10):2397-408.
|
||
doi: 10.1002/ajmg.a.34178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22043478" target="_blank">22043478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10893667">Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behninger C,
|
||
Rott HD</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2000;11(2):157-67.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10893667" target="_blank">10893667</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteopathia%20striata%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 (14)</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/22716240">WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zicari AM,
|
||
Tarani L,
|
||
Perotti D,
|
||
Papetti L,
|
||
Nicita F,
|
||
Liberati N,
|
||
Spalice A,
|
||
Salvatori G,
|
||
Guaraldi F,
|
||
Duse M</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2012 Jun 20;38:27.
|
||
doi: 10.1186/1824-7288-38-27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22716240" target="_blank">22716240</a><a href="/pmc/articles/PMC3416731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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