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<meta name="keywords" content="C1846442, acetabular hypoplasia, finding, hypoplastic acetabula, hypoplastic acetabulae, 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="Underdeveloped acetabulae." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hypoplastic acetabulae (Concept Id: C1846442)
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<!--
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ConceptID=C1846442
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoplastic acetabulae</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375890</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1846442</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Acetabular hypoplasia</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:0003274">HP:0003274</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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">Underdeveloped acetabulae. [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">
<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>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Hypoplastic acetabulae</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/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/242750" ref="tree=MeSH" title="MedGen record for Abnormality of the lower limb">Abnormality of the lower limb</a></span><ul><li><span class="TLline"><a href="/medgen/866624" ref="tree=MeSH" title="MedGen record for Abnormality of lower limb joint">Abnormality of lower limb joint</a></span><ul><li><span class="TLline"><a href="/medgen/866552" ref="tree=MeSH" title="MedGen record for Abnormal hip joint morphology">Abnormal hip joint morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867374" ref="tree=MeSH" title="MedGen record for Abnormal acetabulum morphology">Abnormal acetabulum morphology</a></span><ul><li><span class="matched_ds">Hypoplastic acetabulae</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
<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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_44514"><div><strong>Mucopolysaccharidosis type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44514</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)&#10;Click for more information.">C0026709</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44514">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_120523"><div><strong>Femoral hypoplasia - unusual facies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120523</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)&#10;Click for more information.">C0265263</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/120523">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78655"><div><strong>GM1 gangliosidosis type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78655</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)&#10;Click for more information.">C0268273</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78655">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_208660"><div><strong>Skeletal dysplasia-epilepsy-short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208660</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)&#10;Click for more information.">C0796046</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/208660">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356991"><div><strong>Pelvis-shoulder dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356991</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)&#10;Click for more information.">C1868508</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356991">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854757"><div><strong>Smith-McCort dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854757</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)&#10;Click for more information.">C3888088</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854757">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824006"><div><strong>Bent bone dysplasia syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824006</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)&#10;Click for more information.">C5774233</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Bent bone dysplasia syndrome-2 (BBDS2) is characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, widely spaced nipples, and atrial septal defects. Abnormalities of muscle function are suggested by the presence of elbow fusions, ulnar flexion contractions at the wrist, and bilateral talipes equinovarus, as well as failure to mount a respiratory effort at birth (Barad et al., 2020).&#13; For a general phenotypic description and discussion of genetic heterogeneity of bent bone dysplasia syndrome, see BBDS1 (614592).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824006">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1850976"><div><strong>Developmental dysplasia of the hip 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1850976</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)&#10;Click for more information.">C5882750</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental dysplasia of the hip-3 (DDH3) is characterized by an acetabulum with significantly decreased volume, which increases local stress on the articular surface and causes instability of the hip joint, with pain, disability, and eventually osteoarthritis of the joint. A mouse model has demonstrated that LRP1 deficiency causes DDH through early closure of the Y-shaped triradiate cartilage of the acetabulum (Yan et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of DDH, see DDH1 (142700).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1850976">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1850976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental dysplasia of the hip 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Femoral hypoplasia - unusual facies syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78655" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">GM1 gangliosidosis type 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis type 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356991" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelvis-shoulder dysplasia</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208660" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal dysplasia-epilepsy-short stature syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-McCort dysplasia 1</a></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/38342282">Editorial Commentary: Primary Treatment of Hip Labral, Osseous, Chondral, Capsular, and Extra-Articular Pathology Is Essential: Outcomes Following Revision Are Less Predictable.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kuhns BD,
Domb BG</span><br />
<span class="medgenPMjournal">Arthroscopy</span>
2024 Jul;40(7):2018-2020.
Epub 2024 Feb 10
doi: 10.1016/j.arthro.2024.02.007.
<span class="bold">PMID: </span><a href="/pubmed/38342282" target="_blank">38342282</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypoplastic%20acetabulae)%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 (1)</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/38670346">Labral repair, reconstruction, and augmentation improve postoperative outcomes in patients with irreparable or hypoplastic labra: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson J,
Vivekanantha P,
Blackman B,
Cohen D,
Simunovic N,
Ayeni OR</span><br />
<span class="medgenPMjournal">J ISAKOS</span>
2024 Dec;9(6):100260.
Epub 2024 Apr 24
doi: 10.1016/j.jisako.2024.04.012.
<span class="bold">PMID: </span><a href="/pubmed/38670346" target="_blank">38670346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34389771">Retroversion of the hemipelvis rather than hypoplastic posterior wall decreases acetabular anteversion in hips affected by Perthes disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liao S,
Zhao M,
Wang T,
Li B,
Lin C,
Kc A,
Liu Z,
Huang Q,
Zhao J,
Lu R,
Ding X</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2021 Aug 13;11(1):16506.
doi: 10.1038/s41598-021-95806-w.
<span class="bold">PMID: </span><a href="/pubmed/34389771" target="_blank">34389771</a><a href="/pmc/articles/PMC8363621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26216104">Labral morphologic characteristics in patients with symptomatic acetabular dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sankar WN,
Beaulé PE,
Clohisy JC,
Kim YJ,
Millis MB,
Peters CL,
Podeszwa DA,
Schoenecker PL,
Sierra RJ,
Sink EL,
Sucato DJ,
Zaltz I</span><br />
<span class="medgenPMjournal">Am J Sports Med</span>
2015 Sep;43(9):2152-6.
Epub 2015 Jul 27
doi: 10.1177/0363546515591262.
<span class="bold">PMID: </span><a href="/pubmed/26216104" target="_blank">26216104</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2076921">Reconstruction of the hypoplastic acetabulum in cementless arthroplasty of the hip.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zlatić M,
Radojević B,
Lazović C</span><br />
<span class="medgenPMjournal">Int Orthop</span>
1990;14(4):371-5.
doi: 10.1007/BF00182647.
<span class="bold">PMID: </span><a href="/pubmed/2076921" target="_blank">2076921</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1154071">Chiari's osteotomy of the pelvis: an evaluation of early results.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gaertner trl,
clary BB</span><br />
<span class="medgenPMjournal">South Med J</span>
1975 Jul;68(7):812-6.
doi: 10.1097/00007611-197507000-00005.
<span class="bold">PMID: </span><a href="/pubmed/1154071" target="_blank">1154071</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20acetabulae%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/26216104">Labral morphologic characteristics in patients with symptomatic acetabular dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sankar WN,
Beaulé PE,
Clohisy JC,
Kim YJ,
Millis MB,
Peters CL,
Podeszwa DA,
Schoenecker PL,
Sierra RJ,
Sink EL,
Sucato DJ,
Zaltz I</span><br />
<span class="medgenPMjournal">Am J Sports Med</span>
2015 Sep;43(9):2152-6.
Epub 2015 Jul 27
doi: 10.1177/0363546515591262.
<span class="bold">PMID: </span><a href="/pubmed/26216104" target="_blank">26216104</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24458487">A second family with autosomal recessive spondylometaphyseal dysplasia and early death.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mégarbané A,
Mehawej C,
El Zahr A,
Haddad S,
Cormier-Daire V</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2014 Apr;164A(4):1010-4.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36372.
<span class="bold">PMID: </span><a href="/pubmed/24458487" target="_blank">24458487</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18925669">Sib pair with previously unreported skeletal dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mégarbané A,
Dagher R,
Melki I</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2008 Nov 15;146A(22):2916-9.
doi: 10.1002/ajmg.a.32540.
<span class="bold">PMID: </span><a href="/pubmed/18925669" target="_blank">18925669</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18264856">Ischial spine projection into the pelvis : a new sign for acetabular retroversion.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kalberer F,
Sierra RJ,
Madan SS,
Ganz R,
Leunig M</span><br />
<span class="medgenPMjournal">Clin Orthop Relat Res</span>
2008 Mar;466(3):677-83.
Epub 2008 Feb 10
doi: 10.1007/s11999-007-0058-6.
<span class="bold">PMID: </span><a href="/pubmed/18264856" target="_blank">18264856</a><a href="/pmc/articles/PMC2505226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20acetabulae%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 (4)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38670346">Labral repair, reconstruction, and augmentation improve postoperative outcomes in patients with irreparable or hypoplastic labra: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson J,
Vivekanantha P,
Blackman B,
Cohen D,
Simunovic N,
Ayeni OR</span><br />
<span class="medgenPMjournal">J ISAKOS</span>
2024 Dec;9(6):100260.
Epub 2024 Apr 24
doi: 10.1016/j.jisako.2024.04.012.
<span class="bold">PMID: </span><a href="/pubmed/38670346" target="_blank">38670346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33084911">The dimensions of the hip labrum can be reliably measured using magnetic resonance and computed tomography which can be used to develop a standardized definition of the hypoplastic labrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walker M,
Maini L,
Kay J,
Sansone M,
Mascarenhas VV,
Simunovic N,
Ayeni OR</span><br />
<span class="medgenPMjournal">Knee Surg Sports Traumatol Arthrosc</span>
2021 May;29(5):1432-1452.
Epub 2020 Oct 21
doi: 10.1007/s00167-020-06330-9.
<span class="bold">PMID: </span><a href="/pubmed/33084911" target="_blank">33084911</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29570759">Using Ceramic-on-Ceramic Bearings in Total Hip Arthroplasty Necessitating 44- or 46-mm Metal Shells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park CH,
Ha YC,
Lee YK,
Koo KH</span><br />
<span class="medgenPMjournal">Orthopedics</span>
2018 May 1;41(3):e354-e359.
Epub 2018 Mar 26
doi: 10.3928/01477447-20180320-01.
<span class="bold">PMID: </span><a href="/pubmed/29570759" target="_blank">29570759</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14960667">Total hip arthroplasty for congenital hip disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hartofilakidis G,
Karachalios T</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2004 Feb;86(2):242-50.
doi: 10.2106/00004623-200402000-00005.
<span class="bold">PMID: </span><a href="/pubmed/14960667" target="_blank">14960667</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12596115">Newborn with an open posterior hip dislocation and sciatic nerve injury after intrauterine radiofrequency ablation of a sacrococcygeal teratoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ibrahim D,
Ho E,
Scherl SA,
Sullivan CM</span><br />
<span class="medgenPMjournal">J Pediatr Surg</span>
2003 Feb;38(2):248-50.
doi: 10.1053/jpsu.2003.50055.
<span class="bold">PMID: </span><a href="/pubmed/12596115" target="_blank">12596115</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20acetabulae%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34389771">Retroversion of the hemipelvis rather than hypoplastic posterior wall decreases acetabular anteversion in hips affected by Perthes disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liao S,
Zhao M,
Wang T,
Li B,
Lin C,
Kc A,
Liu Z,
Huang Q,
Zhao J,
Lu R,
Ding X</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2021 Aug 13;11(1):16506.
doi: 10.1038/s41598-021-95806-w.
<span class="bold">PMID: </span><a href="/pubmed/34389771" target="_blank">34389771</a><a href="/pmc/articles/PMC8363621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24151263">Improving pre-operative planning for complex total hip replacement with a Rapid Prototype model enabling surgical simulation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Won SH,
Lee YK,
Ha YC,
Suh YS,
Koo KH</span><br />
<span class="medgenPMjournal">Bone Joint J</span>
2013 Nov;95-B(11):1458-63.
doi: 10.1302/0301-620X.95B11.31878.
<span class="bold">PMID: </span><a href="/pubmed/24151263" target="_blank">24151263</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14960667">Total hip arthroplasty for congenital hip disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hartofilakidis G,
Karachalios T</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Am</span>
2004 Feb;86(2):242-50.
doi: 10.2106/00004623-200402000-00005.
<span class="bold">PMID: </span><a href="/pubmed/14960667" target="_blank">14960667</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2076921">Reconstruction of the hypoplastic acetabulum in cementless arthroplasty of the hip.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zlatić M,
Radojević B,
Lazović C</span><br />
<span class="medgenPMjournal">Int Orthop</span>
1990;14(4):371-5.
doi: 10.1007/BF00182647.
<span class="bold">PMID: </span><a href="/pubmed/2076921" target="_blank">2076921</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1154071">Chiari's osteotomy of the pelvis: an evaluation of early results.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gaertner trl,
clary BB</span><br />
<span class="medgenPMjournal">South Med J</span>
1975 Jul;68(7):812-6.
doi: 10.1097/00007611-197507000-00005.
<span class="bold">PMID: </span><a href="/pubmed/1154071" target="_blank">1154071</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20acetabulae%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 (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38670346">Labral repair, reconstruction, and augmentation improve postoperative outcomes in patients with irreparable or hypoplastic labra: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson J,
Vivekanantha P,
Blackman B,
Cohen D,
Simunovic N,
Ayeni OR</span><br />
<span class="medgenPMjournal">J ISAKOS</span>
2024 Dec;9(6):100260.
Epub 2024 Apr 24
doi: 10.1016/j.jisako.2024.04.012.
<span class="bold">PMID: </span><a href="/pubmed/38670346" target="_blank">38670346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38284453">A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu M,
Li H,
Ren S,
Ding C</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2024 Jan;12(1):e2335.
doi: 10.1002/mgg3.2335.
<span class="bold">PMID: </span><a href="/pubmed/38284453" target="_blank">38284453</a><a href="/pmc/articles/PMC10797836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34389771">Retroversion of the hemipelvis rather than hypoplastic posterior wall decreases acetabular anteversion in hips affected by Perthes disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liao S,
Zhao M,
Wang T,
Li B,
Lin C,
Kc A,
Liu Z,
Huang Q,
Zhao J,
Lu R,
Ding X</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2021 Aug 13;11(1):16506.
doi: 10.1038/s41598-021-95806-w.
<span class="bold">PMID: </span><a href="/pubmed/34389771" target="_blank">34389771</a><a href="/pmc/articles/PMC8363621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33084911">The dimensions of the hip labrum can be reliably measured using magnetic resonance and computed tomography which can be used to develop a standardized definition of the hypoplastic labrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walker M,
Maini L,
Kay J,
Sansone M,
Mascarenhas VV,
Simunovic N,
Ayeni OR</span><br />
<span class="medgenPMjournal">Knee Surg Sports Traumatol Arthrosc</span>
2021 May;29(5):1432-1452.
Epub 2020 Oct 21
doi: 10.1007/s00167-020-06330-9.
<span class="bold">PMID: </span><a href="/pubmed/33084911" target="_blank">33084911</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29570759">Using Ceramic-on-Ceramic Bearings in Total Hip Arthroplasty Necessitating 44- or 46-mm Metal Shells.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park CH,
Ha YC,
Lee YK,
Koo KH</span><br />
<span class="medgenPMjournal">Orthopedics</span>
2018 May 1;41(3):e354-e359.
Epub 2018 Mar 26
doi: 10.3928/01477447-20180320-01.
<span class="bold">PMID: </span><a href="/pubmed/29570759" target="_blank">29570759</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20acetabulae%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 (9)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/38670346">Labral repair, reconstruction, and augmentation improve postoperative outcomes in patients with irreparable or hypoplastic labra: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson J,
Vivekanantha P,
Blackman B,
Cohen D,
Simunovic N,
Ayeni OR</span><br />
<span class="medgenPMjournal">J ISAKOS</span>
2024 Dec;9(6):100260.
Epub 2024 Apr 24
doi: 10.1016/j.jisako.2024.04.012.
<span class="bold">PMID: </span><a href="/pubmed/38670346" target="_blank">38670346</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33084911">The dimensions of the hip labrum can be reliably measured using magnetic resonance and computed tomography which can be used to develop a standardized definition of the hypoplastic labrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walker M,
Maini L,
Kay J,
Sansone M,
Mascarenhas VV,
Simunovic N,
Ayeni OR</span><br />
<span class="medgenPMjournal">Knee Surg Sports Traumatol Arthrosc</span>
2021 May;29(5):1432-1452.
Epub 2020 Oct 21
doi: 10.1007/s00167-020-06330-9.
<span class="bold">PMID: </span><a href="/pubmed/33084911" target="_blank">33084911</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoplastic%20acetabulae%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 (2)</a></div></div>
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