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<meta name="keywords" content="C2674432, decreased bone mineral density, decreased bone mineral density z score, finding, low solidness and mass of the bones, reduced bone mineral density, 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 reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=393152
|
||
ConceptID=C2674432
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Reduced bone mineral density</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393152</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.">C2674432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Decreased bone mineral density Z score</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0004349">HP:0004349</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">A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet 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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2674432[DISCUI]&test_type=Clinical" ref="ncbi_uid=393152">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393152" ref="ncbi_uid=393152">V</a></span></span><span class="TLline">Reduced bone mineral density</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/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/871157" ref="tree=MeSH" title="MedGen record for Abnormal bone structure">Abnormal bone structure</a></span><ul><li><span class="TLline"><a href="/medgen/868756" ref="tree=MeSH" title="MedGen record for Abnormal bone ossification">Abnormal bone ossification</a></span><ul><li><span class="TLline"><a href="/medgen/867294" ref="tree=MeSH" title="MedGen record for Abnormality of bone mineral density">Abnormality of bone mineral density</a></span><ul><li><span class="matched_ds">Reduced bone mineral density</span><ul><li><span class="TLline"><a href="/medgen/371539" ref="tree=MeSH" title="MedGen record for Generalized bone demineralization">Generalized bone demineralization</a></span></li><li><span class="TLline"><a href="/medgen/14533" ref="tree=MeSH" title="MedGen record for Osteomalacia">Osteomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/226893" ref="tree=MeSH" title="MedGen record for Tumor-induced osteomalacia">Tumor-induced osteomalacia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18222" ref="tree=MeSH" title="MedGen record for Osteopenia">Osteopenia</a></span></li><li><span class="TLline"><a href="/medgen/14535" ref="tree=MeSH" title="MedGen record for Osteoporosis">Osteoporosis</a></span><ul><li><span class="TLline"><a href="/medgen/1639139" ref="tree=MeSH" title="MedGen record for Generalized osteoporosis">Generalized osteoporosis</a></span><ul><li><span class="TLline"><a href="/medgen/870709" ref="tree=MeSH" title="MedGen record for Moderate generalized osteoporosis">Moderate generalized osteoporosis</a></span></li><li><span class="TLline"><a href="/medgen/347884" ref="tree=MeSH" title="MedGen record for Severe generalized osteoporosis">Severe generalized osteoporosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120494" ref="tree=MeSH" title="MedGen record for Idiopathic juvenile osteoporosis">Idiopathic 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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="divPopper rprt" id="rdis_12147"><div><strong>Werner syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12147</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:">C0043119</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/12147">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82704"><div><strong>Pyle metaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82704</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.">C0265294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82704">Condition Record</a></div></div>
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<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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78665">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162911"><div><strong>Primrose syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162911</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.">C0796121</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162911">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766801"><div><strong>Osteogenesis imperfecta type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766801</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.">C3553887</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766801">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815336"><div><strong>Cardiofaciocutaneous syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815336</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.">C3809006</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815336">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_909039"><div><strong>Seizures-scoliosis-macrocephaly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909039</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.">C4225248</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/909039">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_903845"><div><strong>Osteogenesis imperfecta type 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903845</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.">C4225301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.\n\nOther types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/903845">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934711"><div><strong>Bone marrow failure syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934711</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.">C4310744</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934711">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1374755"><div><strong>Cole-Carpenter syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1374755</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.">C4317154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cole-Carpenter syndrome is characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features (Cole and Carpenter, 1987). Genetic Heterogeneity of Cole-Carpenter Syndrome Cole-Carpenter syndrome-2 (CLCRP2; 616294) is caused by mutation in the SEC24D gene (607186).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1374755">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1646454"><div><strong>Spondyloepimetaphyseal dysplasia, di rocco type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646454</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.">C4693799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spondyloepimetaphyseal dysplasia of the Di Rocco type (SEMDDR) is characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles. Patients also exhibit variable degrees of metaphyseal and spine involvement (Di Rocco et al., 2018).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1646454">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1683128"><div><strong>Spondyloepiphyseal dysplasia, kondo-fu type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683128</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.">C5193071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes (MBTPS1-SEMD) is characterized by postnatal-onset short stature, chest deformity (pectus carinatum or pectus excavatum), kyphosis and/or scoliosis, reduced bone density, inguinal hernia, protruding abdomen, cataracts, developmental delay, and dysmorphic facial features (prominent forehead, prominent cheekbones, retromicrognathia, wide mouth, and large, prominent ears). Additional features can include waddling or staggering gait, craniosynostosis, mild intellectual disability, and seizures. Imaging findings include diffuse osteopenia, copper-beaten appearance of the skull, dysplasia of multiple thoracolumbar vertebrae, long bones with small and irregular epiphyses and mildly enlarged and irregular metaphyses, hip dysplasia with small fragmented sclerotic femoral heads, and short metacarpals and metatarsals with small epiphyses. Increased concentration of multiple lysosomal hydrolase enzymes can be identified in plasma and dried blood spots.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1683128">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1750003"><div><strong>Rajab interstitial lung disease with brain calcifications 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750003</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.">C5436276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rajab interstitial lung disease with brain calcifications-1 (RILDBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1750003">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1763836"><div><strong>Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1763836</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.">C5436842</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by Cabral et al., 2007; Malfait et al., 2013). Genetic Heterogeneity of Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome Also see OIEDS2 (619120), caused by mutation in the COL1A2 gene (120160) on chromosome 7q21.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1763836">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1784907"><div><strong>Marbach-Rustad progeroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784907</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.">C5543388</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1784907">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1785846"><div><strong>Osteootohepatoenteric syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785846</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.">C5543557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1785846">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794178"><div><strong>Short stature, Dauber-Argente type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794178</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.">C5561968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Short stature of the Dauber-Argente type (SSDA) is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 (147440) due to impaired proteolysis of IGFBP3 (146732) and IGFBP5 (146734), resulting in reduced free IGF1 (Dauber et al., 2016).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1794178">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1801631"><div><strong>Osteogenesis imperfecta, IIA 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801631</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.">C5676943</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1801631">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824067"><div><strong>Congenital disorder of glycosylation, type IIy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824067</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.">C5774294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital disorder of glycosylation type IIy (CDG2Y) is an autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects. Laboratory studies show a subtle type II glycosylation defect of serum transferrin (Tambe et al., 2020). For a general discussion of CDGs, see CDG1A (212065).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824067">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824071"><div><strong>Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824071</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.">C5774298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia (NEDFIH) is an autosomal recessive disorder characterized by these features and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection, the latter of which may be associated with lymphopenia. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum (Muffels et al., 2023).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824071">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1824078"><div><strong>Joint contractures, osteochondromas, and B-cell lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824078</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.">C5774305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint contractures, osteochondromas, and B-cell lymphoma (JCOSL) is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies. Despite the abnormalities in immunologic cells, immunodeficiency is not a feature of the disease, suggesting that it can be classified as a 'primary immune regulatory disorder' (Sharma et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848919"><div><strong>Xerosis and growth failure with immune and pulmonary dysfunction syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848919</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.">C5882692</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Xerosis and growth failure with immune and pulmonary dysfunction syndrome (XGIP) is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Variable features include cardiac anomalies, seizures, encephalopathy, and cholestasis, and cataract has been observed. Affected individuals die within the first year of life (Shamseldin et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1848919">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1846121"><div><strong>Osteogenesis imperfecta, type 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846121</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.">C5882757</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteogenesis imperfecta type XXIII (OI23) is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate (Tuysuz et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1846121">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1052640"><div><strong>Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1052640</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN376901</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism (NEDMSF) is characterized by global developmental delay, poor overall growth, early-onset seizures (in most patients), severely impaired motor development with hypotonia and/or ataxia, and dysmorphic facial features. Affected individuals have impaired intellectual development, which can be severe. Brain imaging may show thin corpus callosum, enlarged ventricles, or cerebellar atrophy (Gennarino et al., 2018; Voet et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1052640">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934711" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow failure syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofaciocutaneous syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1374755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cole-Carpenter syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1763836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital disorder of glycosylation, type IIy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint contractures, osteochondromas, and B-cell lymphoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marbach-Rustad progeroid syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824071" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1052640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta type 17</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_1801631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, IIA 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1846121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteogenesis imperfecta, type 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785846" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteootohepatoenteric syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primrose syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyle metaphyseal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rajab interstitial lung disease with brain calcifications 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_909039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizures-scoliosis-macrocephaly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794178" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, Dauber-Argente type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia, di rocco type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia, kondo-fu type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_12147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Werner syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Xerosis and growth failure with immune and pulmonary dysfunction 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/37214253">Cuproptosis-a potential target for the treatment of osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Gao Z,
|
||
Li Q,
|
||
Liu X,
|
||
Liu H</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1135181.
|
||
Epub 2023 May 5
|
||
doi: 10.3389/fendo.2023.1135181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37214253" target="_blank">37214253</a><a href="/pmc/articles/PMC10196240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36287374">Vitamin D in the older population: a consensus statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giustina A,
|
||
Bouillon R,
|
||
Dawson-Hughes B,
|
||
Ebeling PR,
|
||
Lazaretti-Castro M,
|
||
Lips P,
|
||
Marcocci C,
|
||
Bilezikian JP</span><br />
|
||
<span class="medgenPMjournal">Endocrine</span>
|
||
2023 Jan;79(1):31-44.
|
||
Epub 2022 Oct 26
|
||
doi: 10.1007/s12020-022-03208-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36287374" target="_blank">36287374</a><a href="/pmc/articles/PMC9607753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25162161">Hip fracture: diagnosis, treatment, and secondary prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LeBlanc KE,
|
||
Muncie HL Jr,
|
||
LeBlanc LL</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2014 Jun 15;89(12):945-51.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25162161" target="_blank">25162161</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22reduced%20bone%20mineral%20density%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 (59)</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/37214253">Cuproptosis-a potential target for the treatment of osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Gao Z,
|
||
Li Q,
|
||
Liu X,
|
||
Liu H</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1135181.
|
||
Epub 2023 May 5
|
||
doi: 10.3389/fendo.2023.1135181.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37214253" target="_blank">37214253</a><a href="/pmc/articles/PMC10196240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36817605">Associations between smoke exposure and osteoporosis or osteopenia in a US NHANES population of elderly individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou W,
|
||
Chen S,
|
||
Zhu C,
|
||
Gu Y,
|
||
Zhu L,
|
||
Zhou Z</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2023;14:1074574.
|
||
Epub 2023 Feb 3
|
||
doi: 10.3389/fendo.2023.1074574.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36817605" target="_blank">36817605</a><a href="/pmc/articles/PMC9935577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36769296">Prevalence and Mechanisms of Skeletal Muscle Atrophy in Metabolic Conditions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jun L,
|
||
Robinson M,
|
||
Geetha T,
|
||
Broderick TL,
|
||
Babu JR</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Feb 3;24(3)
|
||
doi: 10.3390/ijms24032973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36769296" target="_blank">36769296</a><a href="/pmc/articles/PMC9917738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34981132">The effects of caffeine on bone mineral density and fracture risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berman NK,
|
||
Honig S,
|
||
Cronstein BN,
|
||
Pillinger MH</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
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2022 Jun;33(6):1235-1241.
|
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Epub 2022 Jan 4
|
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doi: 10.1007/s00198-021-05972-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34981132" target="_blank">34981132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28582319">Osteoporosis in childhood.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vierucci F,
|
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Saggese G,
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Cimaz R</span><br />
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<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
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2017 Sep;29(5):535-546.
|
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doi: 10.1097/BOR.0000000000000423.
|
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<span class="bold">PMID: </span><a href="/pubmed/28582319" target="_blank">28582319</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20bone%20mineral%20density%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 (629)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37304119">Two-sample Mendelian randomization analysis evaluates causal associations between inflammatory bowel disease and osteoporosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dai Z,
|
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Xu W,
|
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Ding R,
|
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Peng X,
|
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Shen X,
|
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Song J,
|
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Du P,
|
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Wang Z,
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Liu Y</span><br />
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<span class="medgenPMjournal">Front Public Health</span>
|
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2023;11:1151837.
|
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Epub 2023 May 26
|
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doi: 10.3389/fpubh.2023.1151837.
|
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<span class="bold">PMID: </span><a href="/pubmed/37304119" target="_blank">37304119</a><a href="/pmc/articles/PMC10250718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32469467">Late-onset Hypogonadism: Bone health.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rochira V</span><br />
|
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<span class="medgenPMjournal">Andrology</span>
|
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2020 Nov;8(6):1539-1550.
|
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Epub 2020 Jun 17
|
||
doi: 10.1111/andr.12827.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32469467" target="_blank">32469467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32392181">Gut microbiota and metabolite alterations associated with reduced bone mineral density or bone metabolic indexes in postmenopausal osteoporosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">He J,
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Xu S,
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Zhang B,
|
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Xiao C,
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Chen Z,
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Si F,
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Fu J,
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Lin X,
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Zheng G,
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Yu G,
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Chen J</span><br />
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<span class="medgenPMjournal">Aging (Albany NY)</span>
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2020 May 11;12(9):8583-8604.
|
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doi: 10.18632/aging.103168.
|
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<span class="bold">PMID: </span><a href="/pubmed/32392181" target="_blank">32392181</a><a href="/pmc/articles/PMC7244073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/28582319">Osteoporosis in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vierucci F,
|
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Saggese G,
|
||
Cimaz R</span><br />
|
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<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
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2017 Sep;29(5):535-546.
|
||
doi: 10.1097/BOR.0000000000000423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28582319" target="_blank">28582319</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/15133327">Osteoporosis and urolithiasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Caudarella R,
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Vescini F,
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Buffa A,
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La Manna G,
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Stefoni S</span><br />
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<span class="medgenPMjournal">Urol Int</span>
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2004;72 Suppl 1:17-9.
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doi: 10.1159/000076585.
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<span class="bold">PMID: </span><a href="/pubmed/15133327" target="_blank">15133327</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20bone%20mineral%20density%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 (226)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37845136">EMAS position statement: Testosterone replacement therapy in older men.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kanakis GA,
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Pofi R,
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Goulis DG,
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Isidori AM,
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Armeni E,
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Erel CT,
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Hillard T,
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Meczekalski B,
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Mendoza N,
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Simoncini T,
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Stute P,
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<span class="medgenPMjournal">Maturitas</span>
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2023 Dec;178:107854.
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<span class="bold">PMID: </span><a href="/pubmed/37845136" target="_blank">37845136</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/37304119">Two-sample Mendelian randomization analysis evaluates causal associations between inflammatory bowel disease and osteoporosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Dai Z,
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Xu W,
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Ding R,
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Peng X,
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Shen X,
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Song J,
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Du P,
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Wang Z,
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Liu Y</span><br />
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<span class="medgenPMjournal">Front Public Health</span>
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2023;11:1151837.
|
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Epub 2023 May 26
|
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doi: 10.3389/fpubh.2023.1151837.
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<span class="bold">PMID: </span><a href="/pubmed/37304119" target="_blank">37304119</a><a href="/pmc/articles/PMC10250718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36287374">Vitamin D in the older population: a consensus statement.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Giustina A,
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Bouillon R,
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Dawson-Hughes B,
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Ebeling PR,
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Lazaretti-Castro M,
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Lips P,
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Marcocci C,
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Bilezikian JP</span><br />
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<span class="medgenPMjournal">Endocrine</span>
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2023 Jan;79(1):31-44.
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Epub 2022 Oct 26
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<span class="bold">PMID: </span><a href="/pubmed/36287374" target="_blank">36287374</a><a href="/pmc/articles/PMC9607753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34981132">The effects of caffeine on bone mineral density and fracture risk.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Berman NK,
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Honig S,
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Cronstein BN,
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Pillinger MH</span><br />
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<span class="medgenPMjournal">Osteoporos Int</span>
|
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2022 Jun;33(6):1235-1241.
|
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Epub 2022 Jan 4
|
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doi: 10.1007/s00198-021-05972-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34981132" target="_blank">34981132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28582319">Osteoporosis in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vierucci F,
|
||
Saggese G,
|
||
Cimaz R</span><br />
|
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<span class="medgenPMjournal">Curr Opin Rheumatol</span>
|
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2017 Sep;29(5):535-546.
|
||
doi: 10.1097/BOR.0000000000000423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28582319" target="_blank">28582319</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20bone%20mineral%20density%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 (335)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37304119">Two-sample Mendelian randomization analysis evaluates causal associations between inflammatory bowel disease and osteoporosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dai Z,
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Xu W,
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Ding R,
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Peng X,
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Shen X,
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Song J,
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Du P,
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Wang Z,
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Liu Y</span><br />
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<span class="medgenPMjournal">Front Public Health</span>
|
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2023;11:1151837.
|
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Epub 2023 May 26
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doi: 10.3389/fpubh.2023.1151837.
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||
<span class="bold">PMID: </span><a href="/pubmed/37304119" target="_blank">37304119</a><a href="/pmc/articles/PMC10250718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35511700">Serum PFAS and Urinary Phthalate Biomarker Concentrations and Bone Mineral Density in 12-19 Year Olds: 2011-2016 NHANES.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carwile JL,
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Seshasayee SM,
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Ahrens KA,
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Hauser R,
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Driban JB,
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Rosen CJ,
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Gordon CM,
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Fleisch AF</span><br />
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
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2022 Jul 14;107(8):e3343-e3352.
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doi: 10.1210/clinem/dgac228.
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<span class="bold">PMID: </span><a href="/pubmed/35511700" target="_blank">35511700</a><a href="/pmc/articles/PMC9282360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32469467">Late-onset Hypogonadism: Bone health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rochira V</span><br />
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<span class="medgenPMjournal">Andrology</span>
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2020 Nov;8(6):1539-1550.
|
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Epub 2020 Jun 17
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doi: 10.1111/andr.12827.
|
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<span class="bold">PMID: </span><a href="/pubmed/32469467" target="_blank">32469467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28582319">Osteoporosis in childhood.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Vierucci F,
|
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Saggese G,
|
||
Cimaz R</span><br />
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<span class="medgenPMjournal">Curr Opin Rheumatol</span>
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2017 Sep;29(5):535-546.
|
||
doi: 10.1097/BOR.0000000000000423.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28582319" target="_blank">28582319</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/28314735">Non-alcoholic fatty liver disease and its relationship with cardiovascular disease and other extrahepatic diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Adams LA,
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Anstee QM,
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Tilg H,
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Targher G</span><br />
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<span class="medgenPMjournal">Gut</span>
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2017 Jun;66(6):1138-1153.
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Epub 2017 Mar 17
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doi: 10.1136/gutjnl-2017-313884.
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<span class="bold">PMID: </span><a href="/pubmed/28314735" target="_blank">28314735</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20bone%20mineral%20density%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 (198)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37304119">Two-sample Mendelian randomization analysis evaluates causal associations between inflammatory bowel disease and osteoporosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dai Z,
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Xu W,
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Ding R,
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Peng X,
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Shen X,
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Song J,
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Du P,
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Wang Z,
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Liu Y</span><br />
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<span class="medgenPMjournal">Front Public Health</span>
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2023;11:1151837.
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Epub 2023 May 26
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doi: 10.3389/fpubh.2023.1151837.
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<span class="bold">PMID: </span><a href="/pubmed/37304119" target="_blank">37304119</a><a href="/pmc/articles/PMC10250718" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36817605">Associations between smoke exposure and osteoporosis or osteopenia in a US NHANES population of elderly individuals.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hou W,
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Chen S,
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Zhu C,
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Gu Y,
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Zhu L,
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Zhou Z</span><br />
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<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
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2023;14:1074574.
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Epub 2023 Feb 3
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doi: 10.3389/fendo.2023.1074574.
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<span class="bold">PMID: </span><a href="/pubmed/36817605" target="_blank">36817605</a><a href="/pmc/articles/PMC9935577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35511700">Serum PFAS and Urinary Phthalate Biomarker Concentrations and Bone Mineral Density in 12-19 Year Olds: 2011-2016 NHANES.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carwile JL,
|
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Seshasayee SM,
|
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Ahrens KA,
|
||
Hauser R,
|
||
Driban JB,
|
||
Rosen CJ,
|
||
Gordon CM,
|
||
Fleisch AF</span><br />
|
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<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
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2022 Jul 14;107(8):e3343-e3352.
|
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doi: 10.1210/clinem/dgac228.
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<span class="bold">PMID: </span><a href="/pubmed/35511700" target="_blank">35511700</a><a href="/pmc/articles/PMC9282360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34705034">Association of Sun-Protective Behaviors With Bone Mineral Density and Osteoporotic Bone Fractures in US Adults.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Afarideh M,
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Sartori-Valinotti JC,
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Tollefson MM</span><br />
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<span class="medgenPMjournal">JAMA Dermatol</span>
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2021 Dec 1;157(12):1437-1446.
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doi: 10.1001/jamadermatol.2021.4143.
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<span class="bold">PMID: </span><a href="/pubmed/34705034" target="_blank">34705034</a><a href="/pmc/articles/PMC8552114" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32392181">Gut microbiota and metabolite alterations associated with reduced bone mineral density or bone metabolic indexes in postmenopausal osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He J,
|
||
Xu S,
|
||
Zhang B,
|
||
Xiao C,
|
||
Chen Z,
|
||
Si F,
|
||
Fu J,
|
||
Lin X,
|
||
Zheng G,
|
||
Yu G,
|
||
Chen J</span><br />
|
||
<span class="medgenPMjournal">Aging (Albany NY)</span>
|
||
2020 May 11;12(9):8583-8604.
|
||
doi: 10.18632/aging.103168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32392181" target="_blank">32392181</a><a href="/pmc/articles/PMC7244073" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20bone%20mineral%20density%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 (398)</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/34285100">Bone Mineral Density and Type 1 Diabetes in Children and Adolescents: A Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Loxton P,
|
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Narayan K,
|
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Munns CF,
|
||
Craig ME</span><br />
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<span class="medgenPMjournal">Diabetes Care</span>
|
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2021 Aug;44(8):1898-1905.
|
||
Epub 2021 Jul 20
|
||
doi: 10.2337/dc20-3128.
|
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<span class="bold">PMID: </span><a href="/pubmed/34285100" target="_blank">34285100</a><a href="/pmc/articles/PMC8385468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30915352">Prevalence and Risk Factors of Reduced Bone Mineral Density in Systemic Lupus Erythematosus Patients: A Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Xia J,
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Luo R,
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Guo S,
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Yang Y,
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Ge S,
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Xu G,
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Zeng R</span><br />
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<span class="medgenPMjournal">Biomed Res Int</span>
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2019;2019:3731648.
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Epub 2019 Feb 20
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doi: 10.1155/2019/3731648.
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<span class="bold">PMID: </span><a href="/pubmed/30915352" target="_blank">30915352</a><a href="/pmc/articles/PMC6402203" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28899800">Bone mineral density and vitamin D status in systemic lupus erythematosus (SLE): A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Salman-Monte TC,
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Torrente-Segarra V,
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Vega-Vidal AL,
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Corzo P,
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Castro-Dominguez F,
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Ojeda F,
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Carbonell-Abelló J</span><br />
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<span class="medgenPMjournal">Autoimmun Rev</span>
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2017 Nov;16(11):1155-1159.
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Epub 2017 Sep 9
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doi: 10.1016/j.autrev.2017.09.011.
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||
<span class="bold">PMID: </span><a href="/pubmed/28899800" target="_blank">28899800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27289533">Nephrolithiasis, bone mineral density, osteoporosis, and fractures: a systematic review and comparative meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lucato P,
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Trevisan C,
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Stubbs B,
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Zanforlini BM,
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Solmi M,
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||
Luchini C,
|
||
Girotti G,
|
||
Pizzato S,
|
||
Manzato E,
|
||
Sergi G,
|
||
Giannini S,
|
||
Fusaro M,
|
||
Veronese N</span><br />
|
||
<span class="medgenPMjournal">Osteoporos Int</span>
|
||
2016 Nov;27(11):3155-3164.
|
||
Epub 2016 Jun 11
|
||
doi: 10.1007/s00198-016-3658-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27289533" target="_blank">27289533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25281333">Prevalence of low bone mineral density in female dancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amorim T,
|
||
Wyon M,
|
||
Maia J,
|
||
Machado JC,
|
||
Marques F,
|
||
Metsios GS,
|
||
Flouris AD,
|
||
Koutedakis Y</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2015 Feb;45(2):257-68.
|
||
doi: 10.1007/s40279-014-0268-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25281333" target="_blank">25281333</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20bone%20mineral%20density%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2674432%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (36)</a></li>
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