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<!--
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||
UID=401474
|
||
ConceptID=C1868578
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Patellar aplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>401474</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.">C1868578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Aplastic patellae</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Aplasia of patella (737219008); Patellar aplasia (737219008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006443">HP:0006443</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Absence of the patella. [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_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="TLclosed"><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 Ocolor" title="OMIM"><a ref="ncbi_uid=358246" target="_blank" href="/omim/168860">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/358246" ref="tree=GTR&ncbi_uid=358246&link_uid=358246" title="View MedGen record for 'Patella aplasia/hypoplasia'">Patella aplasia/hypoplasia</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1868578[DISCUI]&test_type=Clinical" ref="ncbi_uid=401474">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=401474" ref="ncbi_uid=401474">V</a></span></span><span class="TLline">Patellar aplasia</span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/327021" ref="tree=GTR&ncbi_uid=327021&link_uid=327021" title="View MedGen record for 'Patellar hypoplasia'">Patellar hypoplasia</a></span></li></ul></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/1635318" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia of the extremities">Aplasia/hypoplasia of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/892895" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the extremities">Aplasia/hypoplasia involving bones of the extremities</a></span><ul><li><span class="TLline"><a href="/medgen/870588" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia involving bones of the lower limbs">Aplasia/hypoplasia involving bones of the lower limbs</a></span><ul><li><span class="TLline"><a href="/medgen/358246" ref="tree=MeSH" title="MedGen record for Patella aplasia/hypoplasia">Patella aplasia/hypoplasia</a></span><ul><li><span class="matched_ds">Patellar aplasia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</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_10257"><div><strong>Nail-patella syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10257</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.">C0027341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage kidney disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_61235"><div><strong>Radial aplasia-thrombocytopenia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61235</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.">C0175703</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61235">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82696"><div><strong>Autosomal recessive multiple pterygium syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82696</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.">C0265261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82696">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120532"><div><strong>Baller-Gerold syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120532</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.">C0265308</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120532">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333474"><div><strong>Coxopodopatellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333474</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.">C1840061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333474">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340697"><div><strong>Laurin-Sandrow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340697</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.">C1851100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_381208"><div><strong>Genitopatellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381208</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.">C1853566</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381208">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346429"><div><strong>Fuhrmann syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346429</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.">C1856728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fuhrmann syndrome is an autosomal recessive limb reduction disorder characterized by severe bowing of the femora and aplasia or hypoplasia of the fibulae and ulnae. The radius may be shortened and bowed. Patients also exhibit variable poly- and/or oligodactyly, including absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Hypoplasia of the pelvis and congenital dislocation of the hip have also been observed (Fuhrmann et al., 1980; Pfeiffer et al., 1988). Overlapping limb reduction syndromes that are also caused by homozygous mutation in the WNT7A gene include Al-Awadi/Raas-Rothschild syndrome (AARRS; 276820), consisting of absence of ulna and fibula with severe limb deficiency, and Santos syndrome (228930), consisting of fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia. Al-Qattan et al. (2013) stated that AARRS and Fuhrmann syndrome can be differentiated by the following features, which are seen only in AARRS: complete aplasia of 1 or both lower limbs, and absent elbow with radiohumeral synostosis. In addition, the number of digits per hand is 1 to 3 in AARRS, whereas there are 4 to 5 digits in Fuhrmann syndrome. AlQattan et al. (2013) also noted that phocomelia is not a feature of Fuhrmann syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346429">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_349310"><div><strong>Split-hand/foot malformation with long bone deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349310</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.">C1861553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/349310">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358246"><div><strong>Patella aplasia/hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358246</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.">C1868577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence or underdevelopment of the patella.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358246">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462447"><div><strong>Meier-Gorlin syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462447</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.">C3151097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nAbnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462447">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462463"><div><strong>Meier-Gorlin syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462463</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.">C3151113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462463">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462470"><div><strong>Meier-Gorlin syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462470</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.">C3151120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meier-Gorlin syndrome-4 (MGORS4) is a rare autosomal recessive disorder with the hallmarks of short stature, small external ears, and reduced or absent patellae. Breast hypoplasia is present in females (Guernsey et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meier-Gorlin syndrome, see 224690.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462476"><div><strong>Meier-Gorlin syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462476</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.">C3151126</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.\n\nMeier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.\n\nSome people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).\n\nMost people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.\n\nAdditional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462476">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905079"><div><strong>Meier-Gorlin syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905079</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.">C4225188</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905079">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1613834"><div><strong>Microcephaly, short stature, and limb abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1613834</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.">C4539873</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1613834">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641240">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82696" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive multiple pterygium syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baller-Gerold syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coxopodopatellar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fuhrmann syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genitopatellar syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Laurin-Sandrow 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_462447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462463" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462476" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meier-Gorlin syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1613834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly, short stature, and limb abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nail-patella syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Patella aplasia/hypoplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Radial aplasia-thrombocytopenia syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Split-hand/foot malformation with long bone deficiency 1</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/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22patellar%20aplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (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/27037430">Radiological characteristics of the knee joint in nail patella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tigchelaar S,
|
||
Rooy Jd,
|
||
Hannink G,
|
||
Koëter S,
|
||
van Kampen A,
|
||
Bongers E</span><br />
|
||
<span class="medgenPMjournal">Bone Joint J</span>
|
||
2016 Apr;98-B(4):483-9.
|
||
doi: 10.1302/0301-620X.98B4.37025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27037430" target="_blank">27037430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23023959">Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Otten BJ,
|
||
Schoots J,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Borm GF,
|
||
Clayton-Smith J,
|
||
Deal CL,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Sluiter AE,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Nov;158A(11):2733-42.
|
||
Epub 2012 Sep 28
|
||
doi: 10.1002/ajmg.a.35681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23023959" target="_blank">23023959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19434325">Congenital patellar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jerome JT,
|
||
Varghese M,
|
||
Sankaran B</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2009;50(2):291-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19434325" target="_blank">19434325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16143015">Human syndromes with congenital patellar anomalies and the underlying gene defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bongers EM,
|
||
van Kampen A,
|
||
van Bokhoven H,
|
||
Knoers NV</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2005 Oct;68(4):302-19.
|
||
doi: 10.1111/j.1399-0004.2005.00508.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16143015" target="_blank">16143015</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Patellar%20aplasia%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28198391">MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
|
||
Savasta S,
|
||
Russo Raucci A,
|
||
Cerqua C,
|
||
Sartori G,
|
||
Limongelli I,
|
||
Forlino A,
|
||
Maruelli S,
|
||
Perucca P,
|
||
Vergani D,
|
||
Mazzini G,
|
||
Mattevi A,
|
||
Stivala LA,
|
||
Salviati L,
|
||
Zuffardi O</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2017 May;25(5):646-650.
|
||
Epub 2017 Feb 15
|
||
doi: 10.1038/ejhg.2017.5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28198391" target="_blank">28198391</a><a href="/pmc/articles/PMC5437912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23023959">Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Otten BJ,
|
||
Schoots J,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Borm GF,
|
||
Clayton-Smith J,
|
||
Deal CL,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Sluiter AE,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Nov;158A(11):2733-42.
|
||
Epub 2012 Sep 28
|
||
doi: 10.1002/ajmg.a.35681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23023959" target="_blank">23023959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10826616">Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hilhorst-Hofstee Y,
|
||
Shah N,
|
||
Atherton D,
|
||
Harper JI,
|
||
Milla P,
|
||
Winter RM</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2000 Apr;9(2):79-85.
|
||
doi: 10.1097/00019605-200009020-00001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10826616" target="_blank">10826616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2801769">RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kääriäinen H,
|
||
Ryöppy S,
|
||
Norio R</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1989 Jul;33(3):346-51.
|
||
doi: 10.1002/ajmg.1320330312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2801769" target="_blank">2801769</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Patellar%20aplasia%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 (6)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23023959">Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Otten BJ,
|
||
Schoots J,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Borm GF,
|
||
Clayton-Smith J,
|
||
Deal CL,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Sluiter AE,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2012 Nov;158A(11):2733-42.
|
||
Epub 2012 Sep 28
|
||
doi: 10.1002/ajmg.a.35681.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23023959" target="_blank">23023959</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Patellar%20aplasia%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28198391">MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
|
||
Savasta S,
|
||
Russo Raucci A,
|
||
Cerqua C,
|
||
Sartori G,
|
||
Limongelli I,
|
||
Forlino A,
|
||
Maruelli S,
|
||
Perucca P,
|
||
Vergani D,
|
||
Mazzini G,
|
||
Mattevi A,
|
||
Stivala LA,
|
||
Salviati L,
|
||
Zuffardi O</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2017 May;25(5):646-650.
|
||
Epub 2017 Feb 15
|
||
doi: 10.1038/ejhg.2017.5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28198391" target="_blank">28198391</a><a href="/pmc/articles/PMC5437912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27037430">Radiological characteristics of the knee joint in nail patella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tigchelaar S,
|
||
Rooy Jd,
|
||
Hannink G,
|
||
Koëter S,
|
||
van Kampen A,
|
||
Bongers E</span><br />
|
||
<span class="medgenPMjournal">Bone Joint J</span>
|
||
2016 Apr;98-B(4):483-9.
|
||
doi: 10.1302/0301-620X.98B4.37025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27037430" target="_blank">27037430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22265017">De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson MA,
|
||
Deshpande C,
|
||
Dafou D,
|
||
Vissers LE,
|
||
Woollard WJ,
|
||
Holder SE,
|
||
Gillessen-Kaesbach G,
|
||
Derks R,
|
||
White SM,
|
||
Cohen-Snuijf R,
|
||
Kant SG,
|
||
Hoefsloot LH,
|
||
Reardon W,
|
||
Brunner HG,
|
||
Bongers EM,
|
||
Trembath RC</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2012 Feb 10;90(2):290-4.
|
||
Epub 2012 Jan 19
|
||
doi: 10.1016/j.ajhg.2011.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22265017" target="_blank">22265017</a><a href="/pmc/articles/PMC3276665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15481426">Congenital patellar aplasia in conjunction with trisomy 8. A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arslan H,
|
||
Kapukaya A,
|
||
Kayikçi C,
|
||
Demircan A</span><br />
|
||
<span class="medgenPMjournal">Acta Orthop Belg</span>
|
||
2004 Aug;70(4):373-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15481426" target="_blank">15481426</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Patellar%20aplasia%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28198391">MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
|
||
Savasta S,
|
||
Russo Raucci A,
|
||
Cerqua C,
|
||
Sartori G,
|
||
Limongelli I,
|
||
Forlino A,
|
||
Maruelli S,
|
||
Perucca P,
|
||
Vergani D,
|
||
Mazzini G,
|
||
Mattevi A,
|
||
Stivala LA,
|
||
Salviati L,
|
||
Zuffardi O</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2017 May;25(5):646-650.
|
||
Epub 2017 Feb 15
|
||
doi: 10.1038/ejhg.2017.5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28198391" target="_blank">28198391</a><a href="/pmc/articles/PMC5437912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22333897">Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Munnik SA,
|
||
Bicknell LS,
|
||
Aftimos S,
|
||
Al-Aama JY,
|
||
van Bever Y,
|
||
Bober MB,
|
||
Clayton-Smith J,
|
||
Edrees AY,
|
||
Feingold M,
|
||
Fryer A,
|
||
van Hagen JM,
|
||
Hennekam RC,
|
||
Jansweijer MC,
|
||
Johnson D,
|
||
Kant SG,
|
||
Opitz JM,
|
||
Ramadevi AR,
|
||
Reardon W,
|
||
Ross A,
|
||
Sarda P,
|
||
Schrander-Stumpel CT,
|
||
Schoots J,
|
||
Temple IK,
|
||
Terhal PA,
|
||
Toutain A,
|
||
Wise CA,
|
||
Wright M,
|
||
Skidmore DL,
|
||
Samuels ME,
|
||
Hoefsloot LH,
|
||
Knoers NV,
|
||
Brunner HG,
|
||
Jackson AP,
|
||
Bongers EM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6):598-606.
|
||
Epub 2012 Feb 15
|
||
doi: 10.1038/ejhg.2011.269.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22333897" target="_blank">22333897</a><a href="/pmc/articles/PMC3355263" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22265017">De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simpson MA,
|
||
Deshpande C,
|
||
Dafou D,
|
||
Vissers LE,
|
||
Woollard WJ,
|
||
Holder SE,
|
||
Gillessen-Kaesbach G,
|
||
Derks R,
|
||
White SM,
|
||
Cohen-Snuijf R,
|
||
Kant SG,
|
||
Hoefsloot LH,
|
||
Reardon W,
|
||
Brunner HG,
|
||
Bongers EM,
|
||
Trembath RC</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2012 Feb 10;90(2):290-4.
|
||
Epub 2012 Jan 19
|
||
doi: 10.1016/j.ajhg.2011.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22265017" target="_blank">22265017</a><a href="/pmc/articles/PMC3276665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Patellar%20aplasia%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
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|
||
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|
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|
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|
||
|
||
</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
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|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1868578%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C1868578%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1868578%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
|
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</ul></div>
|
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</div>
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Patellar%20aplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
|
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|
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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=(%22patellar%20aplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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=Patellar%20aplasia" target="_blank">MedlinePlus</a></li></ul></div>
|
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<li>
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<a href="/pubmed/clinical?term=Patellar%20aplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Patellar%20aplasia%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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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=401474" ref="log$=recordlinks">ClinVar</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3185e84f3725e59332258">Patellar aplasia</a>
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