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<meta name="keywords" content="C1390474, abnormal susceptibility to fractures, bone fragility, finding, frequent broken bones, increased bone fragility, increased susceptibility to fractures, increased tendency to fractures, 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="An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=234655
|
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ConceptID=C1390474
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Increased susceptibility to fractures</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234655</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:">C1390474</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Bone fragility</td></tr>
|
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<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:0002659">HP:0002659</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">An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. [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="TLline">Increased susceptibility to fractures</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/1728335" ref="tree=MeSH" title="MedGen record for Abnormal musculoskeletal physiology">Abnormal musculoskeletal physiology</a></span><ul><li><span class="matched_ds">Increased susceptibility to fractures</span><ul><li><span class="TLline"><a href="/medgen/376722" ref="tree=MeSH" title="MedGen record for Bowing of limbs due to multiple fractures">Bowing of limbs due to multiple fractures</a></span></li><li><span class="TLline"><a href="/medgen/377844" ref="tree=MeSH" title="MedGen record for Multiple prenatal fractures">Multiple prenatal fractures</a></span></li><li><span class="TLline"><a href="/medgen/42095" ref="tree=MeSH" title="MedGen record for Pathologic fracture">Pathologic fracture</a></span></li><li><span class="TLline"><a href="/medgen/42094" ref="tree=MeSH" title="MedGen record for Recurrent fractures">Recurrent fractures</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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">
|
||
<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_9799"><div><strong>Osteogenesis imperfecta type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9799</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.">C0023931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78665"><div><strong>Osteogenesis imperfecta with normal sclerae, dominant form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78665</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.">C0268363</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75677"><div><strong>Infantile hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75677</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.">C0268412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75677">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120636"><div><strong>Adult hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120636</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.">C0268413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120636">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98480"><div><strong>Osteoporosis with pseudoglioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98480</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.">C0432252</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoporosis-pseudoglioma syndrome (OPPG) is an autosomal recessive disorder characterized by severe osteoporosis and visual disturbance from childhood. Juvenile onset of osteoporosis manifests as long-bone fractures, vertebral compression fractures, kyphoscoliosis, deformity of extremities, and short stature. Congenital or early-onset visual disturbances arise from ophthalmologic problems including retinal detachment and microphthalmia (summary by Narumi et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98480">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98149"><div><strong>Geroderma osteodysplastica</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98149</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.">C0432255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Geroderma osteodysplasticum (GO) is an autosomal recessive disorder characterized by skin wrinkling limited to the dorsa of hands and feet and to the abdomen, bowed long bones, and osteopenia with frequent fractures. There is a distinctive facial appearance with droopy skin at the cheeks, maxillary hypoplasia, and large ears. Adult patients appear prematurely aged (summary by Rajab et al., 2008).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98149">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_96592"><div><strong>Osteoglophonic dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96592</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.">C0432283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoglophonic dysplasia (OGD) is characterized by multisuture craniosynostosis (including cloverleaf skull), distinctive craniofacial features (prominent forehead, proptosis, widely spaced eyes, low-set ears, midface retrusion, short nose, anteverted nares, prognathism, high palate, failure of tooth eruption, and gingival overgrowth), profound short stature with rhizomelia, and short, broad hands and feet. Radiographs show copper beaten appearance to skull, multiple cystic long bone lesions consistent with non-ossifying fibromas, irregular vertebral bodies, and osteopenia with increased risk of fractures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96592">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162903"><div><strong>Deafness dystonia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162903</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.">C0796074</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning at approximately age 20 years, and dementia beginning at approximately age 40 years. Psychiatric symptoms such as personality change and paranoia may appear in childhood and progress. The hearing impairment appears to be consistent in age of onset and progression, whereas the neurologic, visual, and neuropsychiatric signs vary in degree of severity and rate of progression. Females may have mild hearing impairment and focal dystonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162903">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331575"><div><strong>Gnathodiaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331575</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.">C1833736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331575">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373129"><div><strong>Bruck syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373129</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.">C1836602</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bruck syndrome-2 (BRKS2) is an autosomal recessive disorder characterized by osteoporosis, joint contractures at birth, fragile bones, and short stature (Van der Slot et al., 2003). For a discussion of genetic heterogeneity of Bruck syndrome, see Bruck syndrome-1 (BRKS1; 259450).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373129">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_374225"><div><strong>X-linked lethal multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374225</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.">C1839440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374225">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342431"><div><strong>Bruck syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342431</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.">C1850168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bruck syndrome-1 (BRKS1) is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (BRKS2; 609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342431">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381473"><div><strong>Lethal multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381473</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.">C1854678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life.\n\nThe two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after birth.\n\nLethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. In addition, affected fetuses may develop a buildup of excess fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the back of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal malrotation); kidney abnormalities; an opening in the roof of the mouth (a cleft palate); and an unusually small head size (microcephaly). Affected individuals may also develop a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), a condition called a congenital diaphragmatic hernia. Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy.\n\nMultiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381473">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_355427"><div><strong>Grange syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355427</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.">C1865267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Grange syndrome (GRNG) is a rare early-onset disease characterized by hypertension and multifocal stenoocclusive lesions of renal, cerebral, and abdominal arteries. Bone fragility, syndactyly, brachydactyly, congenital heart defects, and learning disabilities have been reported with variable expressivity and incomplete penetrance (summary by Rath et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355427">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394127"><div><strong>Hypophosphatemic nephrolithiasis/osteoporosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394127</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.">C2676782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394127">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436776"><div><strong>Hypophosphatemic nephrolithiasis/osteoporosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436776</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.">C2676786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436776">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462568"><div><strong>Osteogenesis imperfecta type 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462568</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.">C3151218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462568">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481194"><div><strong>Osteogenesis imperfecta type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481194</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.">C3279564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767342"><div><strong>Osteogenesis imperfecta type 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767342</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.">C3554428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767342">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815540"><div><strong>Ehlers-Danlos syndrome, spondylodysplastic type, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815540</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.">C3809210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899166"><div><strong>Paget disease of bone 2, early-onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899166</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.">C4085251</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paget disease (PDB) is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899166">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645042"><div><strong>Ehlers-Danlos syndrome, arthrochalasia type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645042</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.">C4551623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1636142"><div><strong>Cerebroretinal microangiopathy with calcifications and cysts 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636142</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.">C4552029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636142">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809613"><div><strong>Hyper-IgE recurrent infection syndrome 4A, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809613</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.">C5676920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyper-IgE syndrome-4A with recurrent infections (HIES4A) is an autosomal dominant immunologic disorder characterized by recurrent, mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 (147620) and IL11 (147681) signaling (summary by Beziat et al., 2020). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809613">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult hypophosphatasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruck syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruck syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1636142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebroretinal microangiopathy with calcifications and cysts 1</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="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deafness dystonia syndrome</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_1645042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, arthrochalasia type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, spondylodysplastic type, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geroderma osteodysplastica</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331575" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gnathodiaphyseal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355427" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Grange syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-IgE recurrent infection syndrome 4A, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436776" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic nephrolithiasis/osteoporosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394127" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic nephrolithiasis/osteoporosis 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75677" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile hypophosphatasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethal multiple pterygium syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462568" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 11</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767342" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 14</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta with normal sclerae, dominant form</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96592" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoglophonic dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis with pseudoglioma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Paget disease of bone 2, early-onset</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_374225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked lethal multiple pterygium 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/28800970">Guidelines of the Brazilian Society of Rheumatology for the diagnosis and treatment of osteoporosis in men.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loures MAR,
|
||
Zerbini CAF,
|
||
Danowski JS,
|
||
Pereira RMR,
|
||
Moreira C,
|
||
Paula AP,
|
||
Castro CHM,
|
||
Szejnfeld VL,
|
||
Mendonça LMC,
|
||
Radominiski SC,
|
||
Bezerra MC,
|
||
Simões R,
|
||
Bernardo WM</span><br />
|
||
<span class="medgenPMjournal">Rev Bras Reumatol Engl Ed</span>
|
||
2017;57 Suppl 2:497-514.
|
||
Epub 2017 Aug 8
|
||
doi: 10.1016/j.rbre.2017.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28800970" target="_blank">28800970</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23588259">Impact of osteoporosis and its treatment on oral health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anil S,
|
||
Preethanath RS,
|
||
AlMoharib HS,
|
||
Kamath KP,
|
||
Anand PS</span><br />
|
||
<span class="medgenPMjournal">Am J Med Sci</span>
|
||
2013 Nov;346(5):396-401.
|
||
doi: 10.1097/MAJ.0b013e31828983da.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23588259" target="_blank">23588259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18290738">Ankylosing spondylitis and spinal cord injury: origin, incidence, management, and avoidance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobs WB,
|
||
Fehlings MG</span><br />
|
||
<span class="medgenPMjournal">Neurosurg Focus</span>
|
||
2008;24(1):E12.
|
||
doi: 10.3171/FOC/2008/24/1/E12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18290738" target="_blank">18290738</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22increased%20susceptibility%20to%20fractures%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (11)</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/37668887">Bone fragility and osteoporosis in children and young adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Formosa MM,
|
||
Christou MA,
|
||
Mäkitie O</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2024 Feb;47(2):285-298.
|
||
Epub 2023 Sep 5
|
||
doi: 10.1007/s40618-023-02179-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37668887" target="_blank">37668887</a><a href="/pmc/articles/PMC10859323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37610985">Sequential Therapy for the Long-Term Treatment of Postmenopausal Osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramchand SK,
|
||
Leder BZ</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2024 Jan 18;109(2):303-311.
|
||
doi: 10.1210/clinem/dgad496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37610985" target="_blank">37610985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31792439">A road map for understanding molecular and genetic determinants of osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang TL,
|
||
Shen H,
|
||
Liu A,
|
||
Dong SS,
|
||
Zhang L,
|
||
Deng FY,
|
||
Zhao Q,
|
||
Deng HW</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2020 Feb;16(2):91-103.
|
||
Epub 2019 Dec 2
|
||
doi: 10.1038/s41574-019-0282-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31792439" target="_blank">31792439</a><a href="/pmc/articles/PMC6980376" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29618171">Percutaneous vertebroplasty for osteoporotic vertebral compression fracture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchbinder R,
|
||
Johnston RV,
|
||
Rischin KJ,
|
||
Homik J,
|
||
Jones CA,
|
||
Golmohammadi K,
|
||
Kallmes DF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 Apr 4;4(4):CD006349.
|
||
doi: 10.1002/14651858.CD006349.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29618171" target="_blank">29618171</a><a href="/pmc/articles/PMC6494647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11665913">Musculoskeletal fitness, health outcomes and quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kell RT,
|
||
Bell G,
|
||
Quinney A</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2001;31(12):863-73.
|
||
doi: 10.2165/00007256-200131120-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11665913" target="_blank">11665913</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20susceptibility%20to%20fractures%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 (841)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35338655">Present status and future directions: vertical root fractures in root filled teeth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel S,
|
||
Bhuva B,
|
||
Bose R</span><br />
|
||
<span class="medgenPMjournal">Int Endod J</span>
|
||
2022 May;55 Suppl 3(Suppl 3):804-826.
|
||
Epub 2022 Apr 15
|
||
doi: 10.1111/iej.13737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35338655" target="_blank">35338655</a><a href="/pmc/articles/PMC9324143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33931563">Hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenn JS,
|
||
Lorde N,
|
||
Ward JM,
|
||
Borovickova I</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2021 Oct;74(10):635-640.
|
||
Epub 2021 Apr 30
|
||
doi: 10.1136/jclinpath-2021-207426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33931563" target="_blank">33931563</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30485039">Dental Problems in Primary Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephens MB,
|
||
Wiedemer JP,
|
||
Kushner GM</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2018 Dec 1;98(11):654-660.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30485039" target="_blank">30485039</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29382506">Klinefelter syndrome: more than hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanakis GA,
|
||
Nieschlag E</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2018 Sep;86:135-144.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.metabol.2017.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29382506" target="_blank">29382506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9429865">Osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garnero P,
|
||
Delmas PD</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
1997 Dec;26(4):913-36.
|
||
doi: 10.1016/s0889-8529(05)70287-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9429865" target="_blank">9429865</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20susceptibility%20to%20fractures%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 (294)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37759285">Romosozumab in osteoporosis: yesterday, today and tomorrow.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu D,
|
||
Li L,
|
||
Wen Z,
|
||
Wang G</span><br />
|
||
<span class="medgenPMjournal">J Transl Med</span>
|
||
2023 Sep 27;21(1):668.
|
||
doi: 10.1186/s12967-023-04563-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37759285" target="_blank">37759285</a><a href="/pmc/articles/PMC10523692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35338655">Present status and future directions: vertical root fractures in root filled teeth.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel S,
|
||
Bhuva B,
|
||
Bose R</span><br />
|
||
<span class="medgenPMjournal">Int Endod J</span>
|
||
2022 May;55 Suppl 3(Suppl 3):804-826.
|
||
Epub 2022 Apr 15
|
||
doi: 10.1111/iej.13737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35338655" target="_blank">35338655</a><a href="/pmc/articles/PMC9324143" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33931563">Hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenn JS,
|
||
Lorde N,
|
||
Ward JM,
|
||
Borovickova I</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2021 Oct;74(10):635-640.
|
||
Epub 2021 Apr 30
|
||
doi: 10.1136/jclinpath-2021-207426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33931563" target="_blank">33931563</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29382506">Klinefelter syndrome: more than hypogonadism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kanakis GA,
|
||
Nieschlag E</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2018 Sep;86:135-144.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.metabol.2017.09.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29382506" target="_blank">29382506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19400750">Dietary protein, weight loss, and weight maintenance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westerterp-Plantenga MS,
|
||
Nieuwenhuizen A,
|
||
Tomé D,
|
||
Soenen S,
|
||
Westerterp KR</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Nutr</span>
|
||
2009;29:21-41.
|
||
doi: 10.1146/annurev-nutr-080508-141056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19400750" target="_blank">19400750</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20susceptibility%20to%20fractures%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 (341)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33931563">Hypophosphatasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenn JS,
|
||
Lorde N,
|
||
Ward JM,
|
||
Borovickova I</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2021 Oct;74(10):635-640.
|
||
Epub 2021 Apr 30
|
||
doi: 10.1136/jclinpath-2021-207426.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33931563" target="_blank">33931563</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30598549">An atlas of genetic influences on osteoporosis in humans and mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris JA,
|
||
Kemp JP,
|
||
Youlten SE,
|
||
Laurent L,
|
||
Logan JG,
|
||
Chai RC,
|
||
Vulpescu NA,
|
||
Forgetta V,
|
||
Kleinman A,
|
||
Mohanty ST,
|
||
Sergio CM,
|
||
Quinn J,
|
||
Nguyen-Yamamoto L,
|
||
Luco AL,
|
||
Vijay J,
|
||
Simon MM,
|
||
Pramatarova A,
|
||
Medina-Gomez C,
|
||
Trajanoska K,
|
||
Ghirardello EJ,
|
||
Butterfield NC,
|
||
Curry KF,
|
||
Leitch VD,
|
||
Sparkes PC,
|
||
Adoum AT,
|
||
Mannan NS,
|
||
Komla-Ebri DSK,
|
||
Pollard AS,
|
||
Dewhurst HF,
|
||
Hassall TAD,
|
||
Beltejar MG;
|
||
23andMe Research Team,
|
||
Adams DJ,
|
||
Vaillancourt SM,
|
||
Kaptoge S,
|
||
Baldock P,
|
||
Cooper C,
|
||
Reeve J,
|
||
Ntzani EE,
|
||
Evangelou E,
|
||
Ohlsson C,
|
||
Karasik D,
|
||
Rivadeneira F,
|
||
Kiel DP,
|
||
Tobias JH,
|
||
Gregson CL,
|
||
Harvey NC,
|
||
Grundberg E,
|
||
Goltzman D,
|
||
Adams DJ,
|
||
Lelliott CJ,
|
||
Hinds DA,
|
||
Ackert-Bicknell CL,
|
||
Hsu YH,
|
||
Maurano MT,
|
||
Croucher PI,
|
||
Williams GR,
|
||
Bassett JHD,
|
||
Evans DM,
|
||
Richards JB</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2019 Feb;51(2):258-266.
|
||
Epub 2018 Dec 31
|
||
doi: 10.1038/s41588-018-0302-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30598549" target="_blank">30598549</a><a href="/pmc/articles/PMC6358485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23243113">American Medical Society for Sports Medicine position statement: concussion in sport.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harmon KG,
|
||
Drezner JA,
|
||
Gammons M,
|
||
Guskiewicz KM,
|
||
Halstead M,
|
||
Herring SA,
|
||
Kutcher JS,
|
||
Pana A,
|
||
Putukian M,
|
||
Roberts WO</span><br />
|
||
<span class="medgenPMjournal">Br J Sports Med</span>
|
||
2013 Jan;47(1):15-26.
|
||
doi: 10.1136/bjsports-2012-091941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23243113" target="_blank">23243113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17117301">Osteoporosis in men.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Binkley N</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Endocrinol Metabol</span>
|
||
2006 Aug;50(4):764-74.
|
||
doi: 10.1590/s0004-27302006000400021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17117301" target="_blank">17117301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9429865">Osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garnero P,
|
||
Delmas PD</span><br />
|
||
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
|
||
1997 Dec;26(4):913-36.
|
||
doi: 10.1016/s0889-8529(05)70287-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9429865" target="_blank">9429865</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20susceptibility%20to%20fractures%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 (256)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38263267">The role and applications of extracellular vesicles in osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang F,
|
||
Yang J,
|
||
Wang J,
|
||
Li T,
|
||
Wang E,
|
||
Zhang D,
|
||
Liu X,
|
||
Zhou C</span><br />
|
||
<span class="medgenPMjournal">Bone Res</span>
|
||
2024 Jan 23;12(1):4.
|
||
doi: 10.1038/s41413-023-00313-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38263267" target="_blank">38263267</a><a href="/pmc/articles/PMC10806231" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37668887">Bone fragility and osteoporosis in children and young adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Formosa MM,
|
||
Christou MA,
|
||
Mäkitie O</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2024 Feb;47(2):285-298.
|
||
Epub 2023 Sep 5
|
||
doi: 10.1007/s40618-023-02179-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37668887" target="_blank">37668887</a><a href="/pmc/articles/PMC10859323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30598549">An atlas of genetic influences on osteoporosis in humans and mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morris JA,
|
||
Kemp JP,
|
||
Youlten SE,
|
||
Laurent L,
|
||
Logan JG,
|
||
Chai RC,
|
||
Vulpescu NA,
|
||
Forgetta V,
|
||
Kleinman A,
|
||
Mohanty ST,
|
||
Sergio CM,
|
||
Quinn J,
|
||
Nguyen-Yamamoto L,
|
||
Luco AL,
|
||
Vijay J,
|
||
Simon MM,
|
||
Pramatarova A,
|
||
Medina-Gomez C,
|
||
Trajanoska K,
|
||
Ghirardello EJ,
|
||
Butterfield NC,
|
||
Curry KF,
|
||
Leitch VD,
|
||
Sparkes PC,
|
||
Adoum AT,
|
||
Mannan NS,
|
||
Komla-Ebri DSK,
|
||
Pollard AS,
|
||
Dewhurst HF,
|
||
Hassall TAD,
|
||
Beltejar MG;
|
||
23andMe Research Team,
|
||
Adams DJ,
|
||
Vaillancourt SM,
|
||
Kaptoge S,
|
||
Baldock P,
|
||
Cooper C,
|
||
Reeve J,
|
||
Ntzani EE,
|
||
Evangelou E,
|
||
Ohlsson C,
|
||
Karasik D,
|
||
Rivadeneira F,
|
||
Kiel DP,
|
||
Tobias JH,
|
||
Gregson CL,
|
||
Harvey NC,
|
||
Grundberg E,
|
||
Goltzman D,
|
||
Adams DJ,
|
||
Lelliott CJ,
|
||
Hinds DA,
|
||
Ackert-Bicknell CL,
|
||
Hsu YH,
|
||
Maurano MT,
|
||
Croucher PI,
|
||
Williams GR,
|
||
Bassett JHD,
|
||
Evans DM,
|
||
Richards JB</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2019 Feb;51(2):258-266.
|
||
Epub 2018 Dec 31
|
||
doi: 10.1038/s41588-018-0302-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30598549" target="_blank">30598549</a><a href="/pmc/articles/PMC6358485" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19400750">Dietary protein, weight loss, and weight maintenance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westerterp-Plantenga MS,
|
||
Nieuwenhuizen A,
|
||
Tomé D,
|
||
Soenen S,
|
||
Westerterp KR</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Nutr</span>
|
||
2009;29:21-41.
|
||
doi: 10.1146/annurev-nutr-080508-141056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19400750" target="_blank">19400750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14757716">Hazards of heavy metal contamination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Järup L</span><br />
|
||
<span class="medgenPMjournal">Br Med Bull</span>
|
||
2003;68:167-82.
|
||
doi: 10.1093/bmb/ldg032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14757716" target="_blank">14757716</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Increased%20susceptibility%20to%20fractures%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 (409)</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/35348837">Risk of osteoporosis and fracture after hysterectomies without oophorectomies: a systematic review and pooled analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu W,
|
||
Wu W,
|
||
Yang S,
|
||
Chen T,
|
||
Teng X,
|
||
Gao D,
|
||
Zhao S</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2022 Aug;33(8):1677-1686.
|
||
Epub 2022 Mar 29
|
||
doi: 10.1007/s00198-022-06383-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35348837" target="_blank">35348837</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33546858">Effect of intraradicular fiber post on the fracture resistance of endodontically treated and restored anterior teeth: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurema ALB,
|
||
Filgueiras AT,
|
||
Santos KA,
|
||
Bresciani E,
|
||
Caneppele TMF</span><br />
|
||
<span class="medgenPMjournal">J Prosthet Dent</span>
|
||
2022 Jul;128(1):13-24.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1016/j.prosdent.2020.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33546858" target="_blank">33546858</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31390694">Meteorological variables and the risk of fractures: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi T,
|
||
Min M,
|
||
Ye P,
|
||
Wang Y,
|
||
Qu G,
|
||
Zhang Y,
|
||
Liang M,
|
||
Sun Y,
|
||
Duan L,
|
||
Bi P</span><br />
|
||
<span class="medgenPMjournal">Sci Total Environ</span>
|
||
2019 Oct 1;685:1030-1041.
|
||
Epub 2019 Jun 20
|
||
doi: 10.1016/j.scitotenv.2019.06.281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31390694" target="_blank">31390694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29618171">Percutaneous vertebroplasty for osteoporotic vertebral compression fracture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchbinder R,
|
||
Johnston RV,
|
||
Rischin KJ,
|
||
Homik J,
|
||
Jones CA,
|
||
Golmohammadi K,
|
||
Kallmes DF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2018 Apr 4;4(4):CD006349.
|
||
doi: 10.1002/14651858.CD006349.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29618171" target="_blank">29618171</a><a href="/pmc/articles/PMC6494647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25900943">Risk factors which predispose first-time traumatic anterior shoulder dislocations to recurrent instability in adults: a systematic review and meta-analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Olds M,
|
||
Ellis R,
|
||
Donaldson K,
|
||
Parmar P,
|
||
Kersten P</span><br />
|
||
<span class="medgenPMjournal">Br J Sports Med</span>
|
||
2015 Jul;49(14):913-22.
|
||
Epub 2015 Apr 21
|
||
doi: 10.1136/bjsports-2014-094342.
|
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<span class="bold">PMID: </span><a href="/pubmed/25900943" target="_blank">25900943</a><a href="/pmc/articles/PMC4687692" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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