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<!--
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UID=224913
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ConceptID=C1303003
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Epicanthus inversus</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224913</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.">C1303003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Epicanthus inversus (400956000)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000537">HP:0000537</a></td></tr>
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||
<div class="portlet_content ln">A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. [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="matched_ds"><span class="TLline">Epicanthus inversus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871375" ref="tree=MeSH" title="MedGen record for Abnormality of the face">Abnormality of the face</a></span><ul><li><span class="TLline"><a href="/medgen/871367" ref="tree=MeSH" title="MedGen record for Abnormality of the orbital region">Abnormality of the orbital region</a></span><ul><li><span class="TLline"><a href="/medgen/1670962" ref="tree=MeSH" title="MedGen record for Abnormality of the ocular adnexa">Abnormality of the ocular adnexa</a></span><ul><li><span class="TLline"><a href="/medgen/893067" ref="tree=MeSH" title="MedGen record for Abnormal ocular adnexa morphology">Abnormal ocular adnexa morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867429" ref="tree=MeSH" title="MedGen record for Abnormal eyelid morphology">Abnormal eyelid morphology</a></span><ul><li><span class="TLline"><a href="/medgen/151862" ref="tree=MeSH" title="MedGen record for Epicanthus">Epicanthus</a></span><ul><li><span class="matched_ds">Epicanthus inversus</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_86948"><div><strong>Waardenburg syndrome type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86948</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.">C0079661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86948">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_66312"><div><strong>Blepharophimosis, ptosis, and epicanthus inversus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66312</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.">C0220663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208657"><div><strong>3MC syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208657</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.">C0796032</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208657">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167100"><div><strong>3MC syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167100</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.">C0796059</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). Genetic Heterogeneity of 3MC Syndrome Also see 3MC syndrome-2 (3MC2; 265050), caused by mutation in the COLEC11 gene (612502), and 3MC syndrome-3 (3MC3; 248340), caused by mutation in the COLEC1 gene (607620).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167100">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167115"><div><strong>3MC syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167115</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.">C0796279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011). For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (257920).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167115">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350209"><div><strong>Blepharophimosis - intellectual disability syndrome, SBBYS type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350209</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.">C1863557</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/350209">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394425"><div><strong>Intellectual disability, X-linked syndromic, Turner type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394425</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.">C2678046</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394425">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462058"><div><strong>Chromosome 16p13.3 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462058</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.">C3150708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462058">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766850"><div><strong>Peroxisome biogenesis disorder 4A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766850</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.">C3553936</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766850">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811346"><div><strong>Meckel syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811346</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.">C3714506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811346">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816174"><div><strong>Chromosome 22q13 duplication syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816174</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.">C3809844</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/816174">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934585"><div><strong>Hypotonia, ataxia, and delayed development syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934585</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.">C4310618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3-NDD is significant. Although all affected children have DD noted in early infancy, intellect generally ranges from mild to severe ID, with two individuals functioning in the low normal range. Less common issues can include genitourinary abnormalities and gastrointestinal and/or musculoskeletal involvement. To date, 42 symptomatic individuals from 39 families have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934585">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934706"><div><strong>Okur-Chung neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934706</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.">C4310739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with Okur-Chung neurodevelopmental syndrome (OCNDS) frequently have nonspecific clinical features, delayed language development, motor delay, intellectual disability (typically in the mild-to-moderate range), generalized hypotonia starting in infancy, difficulty feeding, and nonspecific dysmorphic facial features. Developmental delay affects all areas of development, but language is more impaired than gross motor skills in most individuals. Intellectual disability has been reported in about three quarters of individuals. Less common findings may include kyphoscoliosis, postnatal short stature, disrupted circadian rhythm leading to sleep disturbance, seizures, and poor coordination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1720440"><div><strong>Genitourinary and/or brain malformation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720440</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.">C5394158</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, most commonly involving the brain and/or urogenital systems. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye (strabismus, microphthalmia/anophthalmia) and skeletal abnormalities (kyphoscoliosis, joint contractures) can also be present in affected individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a difference of sex development (DSD) with gonadal dysgenesis associated with ambiguous genitalia or phenotypic female genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720440">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785087"><div><strong>White-Kernohan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785087</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.">C5543635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by White et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785087">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1803276"><div><strong>Chilton-Okur-Chung neurodevelopmental syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1803276</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.">C5677022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1803276">Condition Record</a></div></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3MC syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3MC syndrome 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3MC syndrome 3</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis - intellectual disability syndrome, SBBYS type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blepharophimosis, ptosis, and epicanthus inversus syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (16)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1803276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chilton-Okur-Chung neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 16p13.3 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q13 duplication syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genitourinary and/or brain malformation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia, ataxia, and delayed development syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked syndromic, Turner type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meckel syndrome, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Okur-Chung neurodevelopmental syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 4A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_86948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785087" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">White-Kernohan syndrome</a></div></span></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/37120360">Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zajicek M,
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Volodarsky-Perel A,
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Shai D,
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Dick-Necula D,
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Raanani H,
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Gruber N,
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Karplus G,
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Kassif E,
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Weisz B,
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Meirow D</span><br />
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<span class="medgenPMjournal">Reprod Biomed Online</span>
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2023 Jul;47(1):102-109.
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Epub 2023 Mar 12
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doi: 10.1016/j.rbmo.2023.03.004.
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<span class="bold">PMID: </span><a href="/pubmed/37120360" target="_blank">37120360</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26100530">Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nuovo S,
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Passeri M,
|
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Di Benedetto E,
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Calanchini M,
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Meldolesi I,
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Di Giacomo MC,
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Petruzzi D,
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Piemontese MR,
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<span class="medgenPMjournal">J Endocrinol Invest</span>
|
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2016 Feb;39(2):227-33.
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Epub 2015 Jun 23
|
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doi: 10.1007/s40618-015-0334-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26100530" target="_blank">26100530</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/11468277">Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">De Baere E,
|
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Dixon MJ,
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Small KW,
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Jabs EW,
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Leroy BP,
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Devriendt K,
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Gillerot Y,
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Mortier G,
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Meire F,
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Van Maldergem L,
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Courtens W,
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Hjalgrim H,
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Huang S,
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Liebaers I,
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Van Regemorter N,
|
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Touraine P,
|
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Praphanphoj V,
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Verloes A,
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Udar N,
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Yellore V,
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Chalukya M,
|
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Yelchits S,
|
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De Paepe A,
|
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Kuttenn F,
|
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Fellous M,
|
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Veitia R,
|
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Messiaen L</span><br />
|
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<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2001 Jul 15;10(15):1591-600.
|
||
doi: 10.1093/hmg/10.15.1591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11468277" target="_blank">11468277</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22epicanthus%20inversus%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 (3)</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/38558253">Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jordan P,
|
||
Verebi C,
|
||
Hervé B,
|
||
Perol S,
|
||
Chakhtoura Z,
|
||
Courtillot C,
|
||
Bachelot A,
|
||
Karila D,
|
||
Renard C,
|
||
Grouthier V,
|
||
de la Croix SM,
|
||
Bernard V,
|
||
Fouveaut C,
|
||
de la Perrière AB,
|
||
Jonard-Catteau S,
|
||
Touraine P,
|
||
Plu-Bureau G,
|
||
Dupont JM,
|
||
Christin-Maitre S,
|
||
Bienvenu T</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2024 Jul;106(1):102-108.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1111/cge.14526.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38558253" target="_blank">38558253</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35574016">Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meng T,
|
||
Zhang W,
|
||
Zhang R,
|
||
Li J,
|
||
Gao Y,
|
||
Qin Y,
|
||
Jiao X</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:829153.
|
||
Epub 2022 Apr 28
|
||
doi: 10.3389/fendo.2022.829153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35574016" target="_blank">35574016</a><a href="/pmc/articles/PMC9097277" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32008456">A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Wu Q,
|
||
Li L,
|
||
Liu W,
|
||
Li C,
|
||
Fan Y,
|
||
Cao W,
|
||
Li N</span><br />
|
||
<span class="medgenPMjournal">Sci Prog</span>
|
||
2020 Jan-Mar;103(1):36850419893880.
|
||
doi: 10.1177/0036850419893880.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32008456" target="_blank">32008456</a><a href="/pmc/articles/PMC10452787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21957947">The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tyers AG</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2011 Oct;30(5):199-201.
|
||
doi: 10.3109/01676830.2010.547266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21957947" target="_blank">21957947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18569825">Three different consecutive manifestations of morphoeic BCC in the same patient: presenting first as ectropion, then entropion, and finally medial canthal dystopia with epicanthus inversus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker HE,
|
||
Berry-Brincat A,
|
||
Zaki I,
|
||
Cheung D</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2008;27(3):183-5.
|
||
doi: 10.1080/01676830701563646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18569825" target="_blank">18569825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epicanthus%20inversus%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 (51)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37932670">Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin ZB,
|
||
Chen ZJ,
|
||
Yang H,
|
||
Ding XR,
|
||
Li J,
|
||
Pan AP,
|
||
Sun HS,
|
||
Yu AY,
|
||
Chen SH</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2023 Nov 7;23(1):446.
|
||
doi: 10.1186/s12886-023-03189-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37932670" target="_blank">37932670</a><a href="/pmc/articles/PMC10629009" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21957947">The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tyers AG</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2011 Oct;30(5):199-201.
|
||
doi: 10.3109/01676830.2010.547266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21957947" target="_blank">21957947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21696507">Blepharophimosis-ptosis-epicanthus inversus syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graziadio C,
|
||
de Moraes FN,
|
||
Rosa RF,
|
||
Zen PR,
|
||
Travi GM,
|
||
Waldman C,
|
||
Medina CT,
|
||
De Baere E,
|
||
Paskulin GA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2011 Jun;53(3):390-2.
|
||
doi: 10.1111/j.1442-200X.2010.03223.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21696507" target="_blank">21696507</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20590414">Ectropion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bedran EG,
|
||
Pereira MV,
|
||
Bernardes TF</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2010 May;25(3):59-65.
|
||
doi: 10.3109/08820538.2010.488570.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20590414" target="_blank">20590414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18427257">Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allen CE,
|
||
Rubin PA</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
2008 Spring;48(2):15-23.
|
||
doi: 10.1097/IIO.0b013e3181694eee.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18427257" target="_blank">18427257</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epicanthus%20inversus%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 (64)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32311999">Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jinxiu L,
|
||
Shuimei L,
|
||
Ming X,
|
||
Jonathan LC,
|
||
Xiangju L,
|
||
Wenyuan D</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2020 Apr;99(16):e19813.
|
||
doi: 10.1097/MD.0000000000019813.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32311999" target="_blank">32311999</a><a href="/pmc/articles/PMC7440326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26833920">Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu X,
|
||
Li J,
|
||
Ru T,
|
||
Wang Y,
|
||
Xu Y,
|
||
Yang Y,
|
||
Wu X,
|
||
Cram DS,
|
||
Hu Y</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2016 Apr;36(4):321-7.
|
||
Epub 2016 Mar 8
|
||
doi: 10.1002/pd.4782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26833920" target="_blank">26833920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24597293">Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roth LW,
|
||
Alvero R</span><br />
|
||
<span class="medgenPMjournal">J Reprod Med</span>
|
||
2014 Jan-Feb;59(1-2):87-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24597293" target="_blank">24597293</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17451085">Tamoxifen treatment in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome and peripheral precocious puberty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González-Niño C,
|
||
Yeste D,
|
||
Carrascosa A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2007 Mar;20(3):445-8.
|
||
doi: 10.1515/jpem.2007.20.3.445.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17451085" target="_blank">17451085</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15459170">A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gersak K,
|
||
Harris SE,
|
||
Smale WJ,
|
||
Shelling AN</span><br />
|
||
<span class="medgenPMjournal">Hum Reprod</span>
|
||
2004 Dec;19(12):2767-70.
|
||
Epub 2004 Sep 30
|
||
doi: 10.1093/humrep/deh496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15459170" target="_blank">15459170</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epicanthus%20inversus%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/26100530">Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nuovo S,
|
||
Passeri M,
|
||
Di Benedetto E,
|
||
Calanchini M,
|
||
Meldolesi I,
|
||
Di Giacomo MC,
|
||
Petruzzi D,
|
||
Piemontese MR,
|
||
Zelante L,
|
||
Sangiuolo F,
|
||
Novelli G,
|
||
Fabbri A,
|
||
Brancati F</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2016 Feb;39(2):227-33.
|
||
Epub 2015 Jun 23
|
||
doi: 10.1007/s40618-015-0334-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26100530" target="_blank">26100530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21957947">The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tyers AG</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2011 Oct;30(5):199-201.
|
||
doi: 10.3109/01676830.2010.547266.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21957947" target="_blank">21957947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20067892">The transcription factor FOXL2 in ovarian function and dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Baere E,
|
||
Fellous M,
|
||
Veitia RA</span><br />
|
||
<span class="medgenPMjournal">Folia Histochem Cytobiol</span>
|
||
2009;47(5):S43-9.
|
||
doi: 10.2478/v10042-009-0062-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20067892" target="_blank">20067892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18569825">Three different consecutive manifestations of morphoeic BCC in the same patient: presenting first as ectropion, then entropion, and finally medial canthal dystopia with epicanthus inversus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baker HE,
|
||
Berry-Brincat A,
|
||
Zaki I,
|
||
Cheung D</span><br />
|
||
<span class="medgenPMjournal">Orbit</span>
|
||
2008;27(3):183-5.
|
||
doi: 10.1080/01676830701563646.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18569825" target="_blank">18569825</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11910558">A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kosaki K,
|
||
Ogata T,
|
||
Kosaki R,
|
||
Sato S,
|
||
Matsuo N</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2002 Mar;23(1):43-7.
|
||
doi: 10.1076/opge.23.1.43.2202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11910558" target="_blank">11910558</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epicanthus%20inversus%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34338304">FOXL2 in adult-type granulosa cell tumour of the ovary: oncogene or tumour suppressor gene?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pilsworth JA,
|
||
Todeschini AL,
|
||
Neilson SJ,
|
||
Cochrane DR,
|
||
Lai D,
|
||
Anttonen M,
|
||
Heikinheimo M,
|
||
Huntsman DG,
|
||
Veitia RA</span><br />
|
||
<span class="medgenPMjournal">J Pathol</span>
|
||
2021 Nov;255(3):225-231.
|
||
Epub 2021 Sep 1
|
||
doi: 10.1002/path.5771.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34338304" target="_blank">34338304</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/32008456">A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
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Wu Q,
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Li L,
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Liu W,
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Li C,
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Fan Y,
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Cao W,
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doi: 10.1177/0036850419893880.
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||
<div class="nl"><a target="_blank" href="/pubmed/22906557">Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Alao MJ,
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Lalèyè A,
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Lalya F,
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Hans Ch,
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Abramovicz M,
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<span class="medgenPMjournal">Eur J Med Genet</span>
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2012 Nov;55(11):630-4.
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Epub 2012 Aug 3
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doi: 10.1016/j.ejmg.2012.07.005.
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||
<span class="bold">PMID: </span><a href="/pubmed/22906557" target="_blank">22906557</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/16481406">An investigation into FOXE1 polyalanine tract length in premature ovarian failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins WJ,
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Harris SE,
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Craven MJ,
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Vincent AL,
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Winship IM,
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<span class="medgenPMjournal">Mol Hum Reprod</span>
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2006 Mar;12(3):145-9.
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||
Epub 2006 Feb 15
|
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doi: 10.1093/molehr/gal017.
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<span class="bold">PMID: </span><a href="/pubmed/16481406" target="_blank">16481406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8275574">Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fryns JP,
|
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Strømme P,
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van den Berghe H</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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1993 Sep;44(3):149-51.
|
||
doi: 10.1111/j.1399-0004.1993.tb03867.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8275574" target="_blank">8275574</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Epicanthus%20inversus%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 (53)</a></div></div>
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