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<!--
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UID=871275
|
||
ConceptID=C4025763
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal rib cage morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871275</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.">C4025763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of the rib cage</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:0001547">HP:0001547</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>
|
||
<div class="portlet_content ln">A morphological anomaly of the rib cage. [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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormal rib cage morphology</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/867418" ref="tree=MeSH" title="MedGen record for Abnormality of the skeletal system">Abnormality of the skeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867424" ref="tree=MeSH" title="MedGen record for Abnormal thorax morphology">Abnormal thorax morphology</a></span><ul><li><span class="matched_ds">Abnormal rib cage morphology</span><ul><li><span class="TLline"><a href="/medgen/348379" ref="tree=MeSH" title="MedGen record for Abnormal facility in opposing the shoulders">Abnormal facility in opposing the shoulders</a></span></li><li><span class="TLline"><a href="/medgen/330763" ref="tree=MeSH" title="MedGen record for Abnormal rib morphology">Abnormal rib morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867419" ref="tree=MeSH" title="MedGen record for Abnormality of the costochondral junction">Abnormality of the costochondral junction</a></span><ul><li><span class="TLline"><a href="/medgen/338492" ref="tree=MeSH" title="MedGen record for Bulging of the costochondral junction">Bulging of the costochondral junction</a></span></li><li><span class="TLline"><a href="/medgen/867230" ref="tree=MeSH" title="MedGen record for Costochondral joint sclerosis">Costochondral joint sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/346535" ref="tree=MeSH" title="MedGen record for Enlargement of the costochondral junction">Enlargement of the costochondral junction</a></span></li><li><span class="TLline"><a href="/medgen/349980" ref="tree=MeSH" title="MedGen record for Irregular chondrocostal junctions">Irregular chondrocostal junctions</a></span></li><li><span class="TLline"><a href="/medgen/1642285" ref="tree=MeSH" title="MedGen record for Rachitic rosary">Rachitic rosary</a></span></li><li><span class="TLline"><a href="/medgen/349985" ref="tree=MeSH" title="MedGen record for Wide-cupped costochondral junctions">Wide-cupped costochondral junctions</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/349346" ref="tree=MeSH" title="MedGen record for Anomalous rib insertion to vertebrae">Anomalous rib insertion to vertebrae</a></span></li><li><span class="TLline"><a href="/medgen/1648338" ref="tree=MeSH" title="MedGen record for Bifid ribs">Bifid ribs</a></span></li><li><span class="TLline"><a href="/medgen/336390" ref="tree=MeSH" title="MedGen record for Broad ribs">Broad ribs</a></span><ul><li><span class="TLline"><a href="/medgen/344777" ref="tree=MeSH" title="MedGen record for Spatulate ribs">Spatulate ribs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870562" ref="tree=MeSH" title="MedGen record for Coat hanger sign of ribs">Coat hanger sign of ribs</a></span></li><li><span class="TLline"><a href="/medgen/1864239" ref="tree=MeSH" title="MedGen record for Crescent-shaped iliac bone">Crescent-shaped iliac bone</a></span></li><li><span class="TLline"><a href="/medgen/351284" ref="tree=MeSH" title="MedGen record for Cupped ribs">Cupped ribs</a></span><ul><li><span class="TLline"><a href="/medgen/337520" ref="tree=MeSH" title="MedGen record for Anterior rib cupping">Anterior rib cupping</a></span></li><li><span class="TLline"><a href="/medgen/400857" ref="tree=MeSH" title="MedGen record for Flared, irregular rib ends">Flared, irregular rib ends</a></span></li><li><span class="TLline"><a href="/medgen/325182" ref="tree=MeSH" title="MedGen record for Posterior rib cupping">Posterior rib cupping</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/381496" ref="tree=MeSH" title="MedGen record for Flaring of rib cage">Flaring of rib cage</a></span><ul><li><span class="TLline"><a href="/medgen/381581" ref="tree=MeSH" title="MedGen record for Flaring of lower rib cage">Flaring of lower rib cage</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/812840" ref="tree=MeSH" title="MedGen record for Horizontal ribs">Horizontal ribs</a></span></li><li><span class="TLline"><a href="/medgen/75784" ref="tree=MeSH" title="MedGen record for Multiple rib fractures">Multiple rib fractures</a></span></li><li><span class="TLline"><a href="/medgen/870564" ref="tree=MeSH" title="MedGen record for Prominent floating ribs">Prominent floating ribs</a></span></li><li><span class="TLline"><a href="/medgen/78570" ref="tree=MeSH" title="MedGen record for Rib fusion">Rib fusion</a></span><ul><li><span class="TLline"><a href="/medgen/330764" ref="tree=MeSH" title="MedGen record for Posterior rib fusion">Posterior rib fusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/605200" ref="tree=MeSH" title="MedGen record for Rib gap">Rib gap</a></span><ul><li><span class="TLline"><a href="/medgen/334230" ref="tree=MeSH" title="MedGen record for Posterior rib gap">Posterior rib gap</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/369388" ref="tree=MeSH" title="MedGen record for Rib segmentation abnormalities">Rib segmentation abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/1863583" ref="tree=MeSH" title="MedGen record for Rib spur">Rib spur</a></span></li><li><span class="TLline"><a href="/medgen/870675" ref="tree=MeSH" title="MedGen record for Superior rib anomalies">Superior rib anomalies</a></span></li><li><span class="TLline"><a href="/medgen/98096" ref="tree=MeSH" title="MedGen record for Thickened ribs">Thickened ribs</a></span></li><li><span class="TLline"><a href="/medgen/98095" ref="tree=MeSH" title="MedGen record for Thin ribs">Thin ribs</a></span></li><li><span class="TLline"><a href="/medgen/409776" ref="tree=MeSH" title="MedGen record for Undulate ribs">Undulate ribs</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/387970" ref="tree=MeSH" title="MedGen record for Asymmetry of the thorax">Asymmetry of the thorax</a></span></li><li><span class="TLline"><a href="/medgen/351320" ref="tree=MeSH" title="MedGen record for Bell-shaped thorax">Bell-shaped thorax</a></span></li><li><span class="TLline"><a href="/medgen/374021" ref="tree=MeSH" title="MedGen record for Deformed rib cage">Deformed rib cage</a></span></li><li><span class="TLline"><a href="/medgen/866616" ref="tree=MeSH" title="MedGen record for Enlarged thorax">Enlarged thorax</a></span><ul><li><span class="TLline"><a href="/medgen/120497" ref="tree=MeSH" title="MedGen record for Barrel-shaped chest">Barrel-shaped chest</a></span></li><li><span class="TLline"><a href="/medgen/336414" ref="tree=MeSH" title="MedGen record for Increased anterioposterior diameter of thorax">Increased anterioposterior diameter of thorax</a></span></li><li><span class="TLline"><a href="/medgen/108393" ref="tree=MeSH" title="MedGen record for Long thorax">Long thorax</a></span></li><li><span class="TLline"><a href="/medgen/322348" ref="tree=MeSH" title="MedGen record for Shield chest">Shield chest</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870567" ref="tree=MeSH" title="MedGen record for Restricted chest movement">Restricted chest movement</a></span></li><li><span class="TLline"><a href="/medgen/538364" ref="tree=MeSH" title="MedGen record for Thoracic cage flatness">Thoracic cage flatness</a></span></li><li><span class="TLline"><a href="/medgen/853272" ref="tree=MeSH" title="MedGen record for Thoracic dysplasia">Thoracic dysplasia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_5414"><div><strong>Hallermann-Streiff syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5414</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018522</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/5414">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_7467"><div><strong>Deficiency of alpha-mannosidase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7467</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:">C0024748</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">The clinical phenotype of alpha-mannosidosis varies considerably, with a wide spectrum of clinical findings and broad variability in individual presentation. At least three clinical types have been suggested in untreated individuals: mild (clinically recognized after age ten years, with myopathy, slow progression, and absence of skeletal abnormalities); moderate (clinically recognized before age ten years, with myopathy, slow progression, and presence of skeletal abnormalities); and severe (obvious progression leading to early death from primary central nervous system involvement or infection). Core features of untreated individuals generally include early childhood-onset non-progressive hearing loss, frequent infections due to immunodeficiency, rheumatologic symptoms (especially systemic lupus erythematosus), developmental delay / intellectual disability, low tone, ataxia, spastic paraplegia, psychiatric findings, bone disease (ranging from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis), gastrointestinal dysfunction (including diarrhea, swallowing issues / aspiration, and enlarged liver and spleen), poor growth, eye issues (including tapetoretinal degeneration and optic nerve atrophy), cardiac complications in adults, and pulmonary issues (including parenchymal lung disease). However, with the advent of enzyme replacement therapy, the natural history of this condition may change. Long-term velmanase alfa (VA) treatment outcomes are still being elucidated, but may include improvement in hearing, immunologic profile, and quality of life (improved clinical outcomes for muscle strength). Similarly, affected individuals who underwent hematopoietic stem cell transplantation (HSCT) experienced improvement in development (with preservation of previously learned skills), ability to participate in activities of daily living, stabilization or improvement in skeletal abnormalities, and improvement in hearing ability, although expressive speech and hearing deficiencies remained the most significant clinical problems after HSCT.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7467">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_66322"><div><strong>Amniotic band syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66322</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.">C0220724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66322">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_65095"><div><strong>Craniofrontonasal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65095</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.">C0220767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65095">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82698"><div><strong>Spondylometaphyseal dysplasia, Kozlowski type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82698</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.">C0265280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82698">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_82785"><div><strong>Partial androgen insensitivity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82785</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.">C0268301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82785">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98047"><div><strong>Eichsfeld type congenital muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98047</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.">C0410180</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.\n\nIn RSMD, muscle weakness is often apparent at birth or within the first few months of life. Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. The neck and back become stiff and rigid, and affected children have limited ability to move their heads up and down or side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk.\n\nA characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. The breathing problems, which tend to occur only at night, can be life-threatening. Many affected individuals require a machine to help them breathe (mechanical ventilation) during sleep.\n\nThe combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98047">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_334166"><div><strong>Lipodystrophy-intellectual disability-deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334166</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.">C1842465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/334166">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338622"><div><strong>Growth delay due to insulin-like growth factor I resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338622</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.">C1849157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/338622">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342534"><div><strong>Nemaline myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342534</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.">C1850569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). Genetic Heterogeneity of Nemaline Myopathy See also NEM1 (255310), caused by mutation in the tropomyosin-3 gene (TPM3; 191030) on chromosome 1q21; NEM3 (161800), caused by mutation in the alpha-actin-1 gene (ACTA1; 102610) on chromosome 1q42; NEM4 (609285), caused by mutation in the beta-tropomyosin gene (TPM2; 190990) on chromosome 9p13; NEM5A (605355), also known as Amish nemaline myopathy, NEM5B (620386), and NEM5C (620389), all caused by mutation in the troponin T1 gene (TNNT1; 191041) on chromosome 19q13; NEM6 (609273), caused by mutation in the KBTBD13 gene (613727) on chromosome 15q22; NEM7 (610687), caused by mutation in the cofilin-2 gene (CFL2; 601443) on chromosome 14q13; NEM8 (615348), caused by mutation in the KLHL40 gene (615340), on chromosome 3p22; NEM9 (615731), caused by mutation in the KLHL41 gene (607701) on chromosome 2q31; NEM10 (616165), caused by mutation in the LMOD3 gene (616112) on chromosome 3p14; and NEM11 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342534">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341637"><div><strong>Autosomal recessive faciodigitogenital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341637</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.">C1856871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341637">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_435914"><div><strong>Mucolipidosis type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435914</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.">C2673377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/435914">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_443956"><div><strong>MGAT2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443956</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.">C2931008</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 disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs (see, e.g., CDG1A, 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; 190000), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). Genetic Heterogeneity of Congenital Disorder of Glycosylation Type II Multiple forms of CDG type II have been identified; see CDG2B (606056) through CDG2Z (620201), and CDG2AA (620454) to CDG2BB (620546).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/443956">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_865814"><div><strong>Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865814</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.">C4017377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/865814">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1641240"><div><strong>Meier-Gorlin syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641240</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.">C4552001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin Syndrome Most forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (613800), caused by mutation in the ORC4 gene (603056) on chromosome 2q23; Meier-Gorlin syndrome-3 (613803), caused by mutation in the ORC6 gene (607213) on chromosome 16q11; Meier-Gorlin syndrome-4 (613804), caused by mutation in the CDT1 gene (605525) on chromosome 16q24; Meier-Gorlin syndrome-5 (613805), caused by mutation in the CDC6 gene (602627) on chromosome 17q21; Meier-Gorlin syndrome-7 (617063), caused by mutation in the CDC45L gene (603465) on chromosome 22q11; and Meier-Gorlin syndrome-8 (617564), caused by mutation in the MCM5 gene (602696) on chromosome 22q12. An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (616835), is caused by mutation in the GMNN gene (602842) on chromosome 6p22.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1641240">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amniotic band syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341637" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive faciodigitogenital syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_65095" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniofrontonasal syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of alpha-mannosidase</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eichsfeld type congenital muscular dystrophy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay due to insulin-like growth factor I resistance</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5414" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hallermann-Streiff syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipodystrophy-intellectual disability-deafness syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_443956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MGAT2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucolipidosis type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Partial androgen insensitivity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_865814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondylometaphyseal dysplasia, Kozlowski type</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/36608471">Cerebral cavernous malformation: Management, outcomes, and surveillance strategies - A single centre retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill CS,
|
||
Borg A,
|
||
Horsfall HL,
|
||
Al-Mohammad A,
|
||
Grover P,
|
||
Kitchen N</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2023 Feb;225:107576.
|
||
Epub 2022 Dec 26
|
||
doi: 10.1016/j.clineuro.2022.107576.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36608471" target="_blank">36608471</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33998075">Prenatal diagnosis of ascending aortic aneurysm associated with sternal cleft.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu J,
|
||
Tse WT,
|
||
Law KM,
|
||
Leung TY</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2022 Feb;59(2):267-268.
|
||
doi: 10.1002/uog.23687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33998075" target="_blank">33998075</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7031930">Diagnosis and operative management of chest wall deformities in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haller JA Jr,
|
||
Turner CS</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
1981 Oct;61(5):1199-207.
|
||
doi: 10.1016/s0039-6109(16)42541-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7031930" target="_blank">7031930</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20rib%20cage%20morphology)%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 (37)</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/38602580">Sternal cleft and pectus excavatum: an overlooked congenital association?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piro L,
|
||
Lena F,
|
||
Roggero A,
|
||
Stagnaro N,
|
||
Mattioli G,
|
||
Torre M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2024 Apr 11;40(1):105.
|
||
doi: 10.1007/s00383-024-05686-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38602580" target="_blank">38602580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30383585">An Evidence-Based Approach to Management of Pectus Excavatum and Carinatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buziashvili D,
|
||
Gopman JM,
|
||
Weissler H,
|
||
Bodenstein L,
|
||
Kaufman AJ,
|
||
Taub PJ</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2019 Mar;82(3):352-358.
|
||
doi: 10.1097/SAP.0000000000001654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30383585" target="_blank">30383585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23657247">Pectus carinatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desmarais TJ,
|
||
Keller MS</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
2013 Jun;25(3):375-81.
|
||
doi: 10.1097/MOP.0b013e3283604088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23657247" target="_blank">23657247</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22581530">The thoracic outlet syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrante MA</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2012 Jun;45(6):780-95.
|
||
doi: 10.1002/mus.23235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22581530" target="_blank">22581530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8172249">Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martínez-Frías ML,
|
||
Urioste M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1994 Jan 1;49(1):36-44.
|
||
doi: 10.1002/ajmg.1320490109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8172249" target="_blank">8172249</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20cage%20morphology%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 (485)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38944483">Pectus Disorders: Excavatum, Carinatum and Arcuatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Notrica DM,
|
||
McMahon LE,
|
||
Jaroszewski DE</span><br />
|
||
<span class="medgenPMjournal">Adv Pediatr</span>
|
||
2024 Aug;71(1):181-194.
|
||
doi: 10.1016/j.yapd.2024.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38944483" target="_blank">38944483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28363367">Straight Back Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright CD</span><br />
|
||
<span class="medgenPMjournal">Thorac Surg Clin</span>
|
||
2017 May;27(2):133-137.
|
||
doi: 10.1016/j.thorsurg.2017.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28363367" target="_blank">28363367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22595715">Chest wall deformities in pediatric surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obermeyer RJ,
|
||
Goretsky MJ</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2012 Jun;92(3):669-84, ix.
|
||
Epub 2012 Apr 17
|
||
doi: 10.1016/j.suc.2012.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22595715" target="_blank">22595715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12407366">Thoracic outlet syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mackinnon SE,
|
||
Novak CB</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Surg</span>
|
||
2002 Nov;39(11):1070-145.
|
||
doi: 10.1067/msg.2002.127926.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12407366" target="_blank">12407366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12011143">Robinow syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patton MA,
|
||
Afzal AR</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2002 May;39(5):305-10.
|
||
doi: 10.1136/jmg.39.5.305.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12011143" target="_blank">12011143</a><a href="/pmc/articles/PMC1735132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20cage%20morphology%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 (679)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31003586">Pectus excavatum repair using bridge fixation system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinh VH,
|
||
Khanh HQ,
|
||
Binh NH,
|
||
Khoi NV</span><br />
|
||
<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
|
||
2019 Jun;27(5):374-380.
|
||
Epub 2019 Apr 19
|
||
doi: 10.1177/0218492319846733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31003586" target="_blank">31003586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28863859">Grafting materials for alveolar cleft reconstruction: a systematic review and best-evidence synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu C,
|
||
Pan W,
|
||
Feng C,
|
||
Su Z,
|
||
Duan Z,
|
||
Zheng Q,
|
||
Hua C,
|
||
Li C</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2018 Mar;47(3):345-356.
|
||
Epub 2017 Aug 31
|
||
doi: 10.1016/j.ijom.2017.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28863859" target="_blank">28863859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24823848">Treatment of congenital thoracic scoliosis with associated rib fusions using VEPTR expansion thoracostomy: a surgical technique.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dayer R,
|
||
Ceroni D,
|
||
Lascombes P</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2014 Jul;23 Suppl 4:S424-31.
|
||
Epub 2014 May 14
|
||
doi: 10.1007/s00586-014-3338-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24823848" target="_blank">24823848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24529771">Non-traumatic and spontaneous hemothorax in the setting of forensic medical examination: a systematic literature survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janik M,
|
||
Straka L,
|
||
Krajcovic J,
|
||
Hejna P,
|
||
Hamzik J,
|
||
Novomesky F</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2014 Mar;236:22-9.
|
||
Epub 2013 Dec 25
|
||
doi: 10.1016/j.forsciint.2013.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24529771" target="_blank">24529771</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12524594">Structural grafting in rhinoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quatela VC,
|
||
Jacono AA</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg</span>
|
||
2002 Nov;18(4):223-32.
|
||
doi: 10.1055/s-2002-36490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12524594" target="_blank">12524594</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20cage%20morphology%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 (164)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30383585">An Evidence-Based Approach to Management of Pectus Excavatum and Carinatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buziashvili D,
|
||
Gopman JM,
|
||
Weissler H,
|
||
Bodenstein L,
|
||
Kaufman AJ,
|
||
Taub PJ</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2019 Mar;82(3):352-358.
|
||
doi: 10.1097/SAP.0000000000001654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30383585" target="_blank">30383585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16567923">Jarcho-Levin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kulkarni ML,
|
||
Navaz SR,
|
||
Vani HN,
|
||
Manjunath KS,
|
||
Matani D</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2006 Mar;73(3):245-7.
|
||
doi: 10.1007/BF02825493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16567923" target="_blank">16567923</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16149827">Spinal anomalies in Goldenhar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson PJ,
|
||
David DJ</span><br />
|
||
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
|
||
2005 Sep;42(5):477-80.
|
||
doi: 10.1597/04-142051r.1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16149827" target="_blank">16149827</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14530101">Pectus carinatum: the undertreated chest malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fonkalsrud EW</span><br />
|
||
<span class="medgenPMjournal">Asian J Surg</span>
|
||
2003 Oct;26(4):189-92.
|
||
doi: 10.1016/S1015-9584(09)60300-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14530101" target="_blank">14530101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12723590">Chondrosarcoma of the rib.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimoyama T,
|
||
Suzuki R,
|
||
Yoshiya K,
|
||
Yamato Y,
|
||
Koike T</span><br />
|
||
<span class="medgenPMjournal">Jpn J Thorac Cardiovasc Surg</span>
|
||
2003 Apr;51(4):167-71.
|
||
doi: 10.1007/s11748-003-0056-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12723590" target="_blank">12723590</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20cage%20morphology%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 (343)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38602580">Sternal cleft and pectus excavatum: an overlooked congenital association?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Piro L,
|
||
Lena F,
|
||
Roggero A,
|
||
Stagnaro N,
|
||
Mattioli G,
|
||
Torre M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2024 Apr 11;40(1):105.
|
||
doi: 10.1007/s00383-024-05686-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38602580" target="_blank">38602580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33642414">Isolated central sterna clefts: A rare congenital malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laamiri R,
|
||
Kechiche N,
|
||
Hmidi N,
|
||
Sahnoun L,
|
||
Mekki M,
|
||
Belghith M,
|
||
Ksia A,
|
||
Nouri A</span><br />
|
||
<span class="medgenPMjournal">Afr J Paediatr Surg</span>
|
||
2021 Apr-Jun;18(2):117-118.
|
||
doi: 10.4103/ajps.AJPS_47_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33642414" target="_blank">33642414</a><a href="/pmc/articles/PMC8232357" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12524594">Structural grafting in rhinoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quatela VC,
|
||
Jacono AA</span><br />
|
||
<span class="medgenPMjournal">Facial Plast Surg</span>
|
||
2002 Nov;18(4):223-32.
|
||
doi: 10.1055/s-2002-36490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12524594" target="_blank">12524594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8882789">Cerebro-costo-mandibular syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plötz FB,
|
||
van Essen AJ,
|
||
Bosschaart AN,
|
||
Bos AP</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1996 Mar 29;62(3):286-92.
|
||
doi: 10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8882789" target="_blank">8882789</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/71760">The painful shoulder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bland JH,
|
||
Merrit JA,
|
||
Boushey DR</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
1977 Aug;7(1):21-47.
|
||
doi: 10.1016/s0049-0172(77)80003-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/71760" target="_blank">71760</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20cage%20morphology%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 (228)</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/38781833">Comprehensive analysis of donor-site chest deformities after autologous costal cartilage microtia reconstruction: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim J,
|
||
Park C,
|
||
Oh KS,
|
||
Lim SY</span><br />
|
||
<span class="medgenPMjournal">J Plast Reconstr Aesthet Surg</span>
|
||
2024 Jul;94:128-140.
|
||
Epub 2024 May 10
|
||
doi: 10.1016/j.bjps.2024.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38781833" target="_blank">38781833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33470621">Reconstruction of Congenital Sternal Cleft: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinchcliff KM,
|
||
Xue Y,
|
||
Wong GB</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2021 May 1;86(5S Suppl 3):S418-S421.
|
||
doi: 10.1097/SAP.0000000000002724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33470621" target="_blank">33470621</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28863859">Grafting materials for alveolar cleft reconstruction: a systematic review and best-evidence synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu C,
|
||
Pan W,
|
||
Feng C,
|
||
Su Z,
|
||
Duan Z,
|
||
Zheng Q,
|
||
Hua C,
|
||
Li C</span><br />
|
||
<span class="medgenPMjournal">Int J Oral Maxillofac Surg</span>
|
||
2018 Mar;47(3):345-356.
|
||
Epub 2017 Aug 31
|
||
doi: 10.1016/j.ijom.2017.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28863859" target="_blank">28863859</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24529771">Non-traumatic and spontaneous hemothorax in the setting of forensic medical examination: a systematic literature survey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Janik M,
|
||
Straka L,
|
||
Krajcovic J,
|
||
Hejna P,
|
||
Hamzik J,
|
||
Novomesky F</span><br />
|
||
<span class="medgenPMjournal">Forensic Sci Int</span>
|
||
2014 Mar;236:22-9.
|
||
Epub 2013 Dec 25
|
||
doi: 10.1016/j.forsciint.2013.12.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24529771" target="_blank">24529771</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20rib%20cage%20morphology%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Abnormal%20rib%20cage%20morphology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20rib%20cage%20morphology)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormal%20rib%20cage%20morphology" target="_blank">MedlinePlus</a></li></ul></div>
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|
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<div class="portlet brieflink">
|
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<div class="portlet_head">
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<a href="/pubmed/clinical?term=Abnormal%20rib%20cage%20morphology" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Abnormal%20rib%20cage%20morphology%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=871275" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<ul id="activity">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2eacb2f30673f7ba8b825">Abnormal rib cage morphology</a>
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<div class="ralinkpop offscreen_noflow">Abnormal rib cage morphology<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2eac8cde49f3df78e7253">Increased vertebral height</a>
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<div class="tertiary">MedGen</div>
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<div class="ralinkpop offscreen_noflow">Thickened calvaria<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="ralinkpop offscreen_noflow">Thoracolumbar kyphosis<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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