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<!--
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UID=272242
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ConceptID=C1328931
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Multiple lentigines</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>272242</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.">C1328931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Liver spots</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:0001003">HP:0001003</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Presence of an unusually high number of lentigines (singular [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Multiple lentigines</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/19974" ref="tree=MeSH" title="MedGen record for Clinical finding">Clinical finding</a></span><ul><li><span class="TLline"><a href="/medgen/761917" ref="tree=MeSH" title="MedGen record for Sign or Symptom">Sign or Symptom</a></span><ul><li><span class="TLline"><a href="/medgen/232646" ref="tree=MeSH" title="MedGen record for Integumentary System Signs and Symptoms">Integumentary System Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/451035" ref="tree=MeSH" title="MedGen record for Macule">Macule</a></span><ul><li><span class="TLline"><a href="/medgen/375013" ref="tree=MeSH" title="MedGen record for Hypermelanotic macule">Hypermelanotic macule</a></span><ul><li><span class="matched_ds">Multiple lentigines</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_167094"><div><strong>Hereditary spastic paraplegia 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167094</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.">C0796019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-23 (SPG23) is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167094">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_266149"><div><strong>Cardio-facio-cutaneous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266149</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.">C1275081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/266149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325345"><div><strong>Arterial dissection-lentiginosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325345</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.">C1838122</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325345">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333550"><div><strong>Hyperpigmentation with or without hypopigmentation, familial progressive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333550</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.">C1840392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial progressive hyperpigmentation with or without hypopigmentation (FPHH) is characterized by diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. These features, which involve the face, neck, trunk, and limbs, are seen at birth or develop early in infancy (summary by Wang et al., 2009 and Amyere et al., 2011). Also see familial progressive hyperpigmentation (FPH1; 614233).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333550">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338154"><div><strong>Gastrocutaneous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338154</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.">C1850899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare syndromic hyperpigmentation of the skin with characteristics of multiple lentigines and cafe-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338154">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370588"><div><strong>LEOPARD syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370588</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.">C1969056</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370588">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_370589"><div><strong>Noonan syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370589</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.">C1969057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/370589">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388559"><div><strong>Carney complex, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388559</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.">C2607929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388559">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413028"><div><strong>Noonan syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413028</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.">C2750732</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462321"><div><strong>LEOPARD syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462321</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.">C3150971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462321">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815337"><div><strong>Cardiofaciocutaneous syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815337</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3809007</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1379805"><div><strong>Noonan syndrome-like disorder with loose anagen hair 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379805</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.">C4478716</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Reviews Komatsuzaki et al. (2010) reviewed the clinical manifestations of patients with Noonan syndrome, Costello syndrome (218040), and cardiofaciocutaneous syndrome (CFC; see 115150) compared to patients with mutations in the SHOC2 gene. They noted that although there is phenotypic overlap among the disorders, loose anagen/easily pluckable hair had not been reported in mutation-positive patients with Noonan, CFC, or Costello syndrome, and appeared to be a distinctive feature of SHOC2 mutation-positive patients. Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen Hair NSLH2 (617506) is caused by mutation in the PPP1CB gene (600590) on chromosome 2p23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1379805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1631694"><div><strong>LEOPARD syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631694</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.">C4551484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1631694">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1761918"><div><strong>Noonan syndrome 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1761918</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.">C5436773</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1761918">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial dissection-lentiginosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardio-facio-cutaneous syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofaciocutaneous syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carney complex, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrocutaneous syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary spastic paraplegia 23</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation with or without hypopigmentation, familial progressive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LEOPARD syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370588" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LEOPARD syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LEOPARD syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1761918" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_370589" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1379805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome-like disorder with loose anagen hair 1</a></div></span></div></div>
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</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/35156148">An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yi JS,
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Perla S,
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Bennett AM</span><br />
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<span class="medgenPMjournal">Cardiovasc Drugs Ther</span>
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2023 Dec;37(6):1193-1204.
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Epub 2022 Feb 14
|
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doi: 10.1007/s10557-022-07324-0.
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<span class="bold">PMID: </span><a href="/pubmed/35156148" target="_blank">35156148</a><a href="/pmc/articles/PMC11726350" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36541891">Dermatological manifestations, management, and care in RASopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kavamura MI,
|
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Leoni C,
|
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Neri G</span><br />
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||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2022 Dec;190(4):452-458.
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||
Epub 2022 Dec 21
|
||
doi: 10.1002/ajmg.c.32027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36541891" target="_blank">36541891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36533679">New prospectives on treatment opportunities in RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gelb BD,
|
||
Yohe ME,
|
||
Wolf C,
|
||
Andelfinger G</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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||
2022 Dec;190(4):541-560.
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Epub 2022 Dec 19
|
||
doi: 10.1002/ajmg.c.32024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36533679" target="_blank">36533679</a><a href="/pmc/articles/PMC10150944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22multiple%20lentigines%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 (7)</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/36428239">Clinical overview on RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zenker M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Dec;190(4):414-424.
|
||
Epub 2022 Nov 25
|
||
doi: 10.1002/ajmg.c.32015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36428239" target="_blank">36428239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35138057">RASopathies: Dermatologists' viewpoints.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palit A,
|
||
Inamadar AC</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2022 May-Jun;88(4):452-463.
|
||
doi: 10.25259/IJDVL_799_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35138057" target="_blank">35138057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29432239">Neurocutaneous Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosser T</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2018 Feb;24(1, Child Neurology):96-129.
|
||
doi: 10.1212/CON.0000000000000562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29432239" target="_blank">29432239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26446362">Recent advances in RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aoki Y,
|
||
Niihori T,
|
||
Inoue S,
|
||
Matsubara Y</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2016 Jan;61(1):33-9.
|
||
Epub 2015 Oct 8
|
||
doi: 10.1038/jhg.2015.114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26446362" target="_blank">26446362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23875798">The RASopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rauen KA</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Genomics Hum Genet</span>
|
||
2013;14:355-69.
|
||
Epub 2013 Jul 15
|
||
doi: 10.1146/annurev-genom-091212-153523.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23875798" target="_blank">23875798</a><a href="/pmc/articles/PMC4115674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lentigines%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 (69)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36273552">Noonan Syndrome With Multiple Lentigines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez-Molina M,
|
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Fabregat-Pratdepadua M,
|
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Bielsa Marsol I</span><br />
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<span class="medgenPMjournal">Actas Dermosifiliogr</span>
|
||
2024 Apr;115(4):414-416.
|
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Epub 2022 Oct 21
|
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doi: 10.1016/j.ad.2022.05.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36273552" target="_blank">36273552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35138057">RASopathies: Dermatologists' viewpoints.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palit A,
|
||
Inamadar AC</span><br />
|
||
<span class="medgenPMjournal">Indian J Dermatol Venereol Leprol</span>
|
||
2022 May-Jun;88(4):452-463.
|
||
doi: 10.25259/IJDVL_799_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35138057" target="_blank">35138057</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29432239">Neurocutaneous Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosser T</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2018 Feb;24(1, Child Neurology):96-129.
|
||
doi: 10.1212/CON.0000000000000562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29432239" target="_blank">29432239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18505544">Leopard syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sarkozy A,
|
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Digilio MC,
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Dallapiccola B</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2008 May 27;3:13.
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<span class="bold">PMID: </span><a href="/pubmed/18505544" target="_blank">18505544</a><a href="/pmc/articles/PMC2467408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8565249">Partial lentiginosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Parslew R,
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Verbov JL</span><br />
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<span class="medgenPMjournal">Clin Exp Dermatol</span>
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<span class="bold">PMID: </span><a href="/pubmed/8565249" target="_blank">8565249</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lentigines%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 (105)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38432396">MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chaput D,
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Andelfinger G</span><br />
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<span class="medgenPMjournal">Can J Cardiol</span>
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2024 May;40(5):789-799.
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Epub 2024 Mar 1
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doi: 10.1016/j.cjca.2024.02.020.
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<span class="bold">PMID: </span><a href="/pubmed/38432396" target="_blank">38432396</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30710906">Appearance of lentigines in psoriasis patient treated with guselkumab.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lee EB,
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Reynolds KA,
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Pithadia DJ,
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Wu JJ</span><br />
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<span class="medgenPMjournal">Dermatol Online J</span>
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2019 Jan 15;25(1)
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<span class="bold">PMID: </span><a href="/pubmed/30710906" target="_blank">30710906</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/27840890">A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang J,
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Zhang J,
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Li X,
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Wang Z,
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Lei D,
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<span class="bold">PMID: </span><a href="/pubmed/27840890" target="_blank">27840890</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stevenson DA,
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Schoyer L,
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Fisher MJ,
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Gelb BD,
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<span class="bold">PMID: </span><a href="/pubmed/27155140" target="_blank">27155140</a><a href="/pmc/articles/PMC4945362" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15078383">Anaesthetic implications of LEOPARD syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Torres J,
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<span class="medgenPMjournal">Paediatr Anaesth</span>
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2004 Apr;14(4):352-6.
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<span class="bold">PMID: </span><a href="/pubmed/15078383" target="_blank">15078383</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lentigines%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 (16)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38217456">Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boleti O,
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Norrish G,
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Field E,
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Dady K,
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Summers K,
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Nepali G,
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Bhole V,
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Uzun O,
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Wong A,
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Daubeney PEF,
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Stuart G,
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Fernandes P,
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McLeod K,
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Ilina M,
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Ali MNL,
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Bharucha T,
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Donne GD,
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Brown E,
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Linter K,
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Jones CB,
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Searle J,
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Regan W,
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Mathur S,
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Boyd N,
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Reinhardt Z,
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Duignan S,
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Prendiville T,
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Adwani S,
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Kaski JP</span><br />
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<span class="medgenPMjournal">ESC Heart Fail</span>
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2024 Apr;11(2):923-936.
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Epub 2024 Jan 13
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doi: 10.1002/ehf2.14637.
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<span class="bold">PMID: </span><a href="/pubmed/38217456" target="_blank">38217456</a><a href="/pmc/articles/PMC10966228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/36408797">The heart in RASopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Delogu AB,
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Limongelli G,
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Versacci P,
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Adorisio R,
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Kaski JP,
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Blandino R,
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Maiolo S,
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Monda E,
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Putotto C,
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De Rosa G,
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Chatfield KC,
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Gelb BD,
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Calcagni G</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2022 Dec;190(4):440-451.
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Epub 2022 Nov 21
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doi: 10.1002/ajmg.c.32014.
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<span class="bold">PMID: </span><a href="/pubmed/36408797" target="_blank">36408797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18505544">Leopard syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sarkozy A,
|
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Digilio MC,
|
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Dallapiccola B</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2008 May 27;3:13.
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doi: 10.1186/1750-1172-3-13.
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<span class="bold">PMID: </span><a href="/pubmed/18505544" target="_blank">18505544</a><a href="/pmc/articles/PMC2467408" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12657016">LEOPARD syndrome with a new association of congenital corneal tumor, choristoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Choi WW,
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Yoo JY,
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Park KC,
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Kim KH</span><br />
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<span class="medgenPMjournal">Pediatr Dermatol</span>
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2003 Mar-Apr;20(2):158-60.
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<span class="bold">PMID: </span><a href="/pubmed/12657016" target="_blank">12657016</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11603390">Extensive partial unilateral lentiginosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Romiti R,
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Harnache JDI,
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Neto CF,
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Kreuter A,
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Altmeyer P,
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<span class="bold">PMID: </span><a href="/pubmed/11603390" target="_blank">11603390</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lentigines%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 (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38217456">Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Boleti O,
|
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Norrish G,
|
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Field E,
|
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Dady K,
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Summers K,
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Nepali G,
|
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Bhole V,
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Uzun O,
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Wong A,
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Daubeney PEF,
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Stuart G,
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Fernandes P,
|
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McLeod K,
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Ilina M,
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Ali MNL,
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Bharucha T,
|
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Donne GD,
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Brown E,
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Linter K,
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Jones CB,
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Searle J,
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Regan W,
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Mathur S,
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Boyd N,
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Reinhardt Z,
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Duignan S,
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Prendiville T,
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Adwani S,
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Kaski JP</span><br />
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<span class="medgenPMjournal">ESC Heart Fail</span>
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2024 Apr;11(2):923-936.
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Epub 2024 Jan 13
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doi: 10.1002/ehf2.14637.
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<span class="bold">PMID: </span><a href="/pubmed/38217456" target="_blank">38217456</a><a href="/pmc/articles/PMC10966228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38439730">A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brusasco M,
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Kalaja A,
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<span class="bold">PMID: </span><a href="/pubmed/38439730" target="_blank">38439730</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37199218">Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/37199218" target="_blank">37199218</a><a href="/pmc/articles/PMC11791648" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34968628">Natural history of left ventricular hypertrophy in infants of diabetic mothers.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Monda E,
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Verrillo F,
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Rubino M,
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Fusco A,
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Esposito A,
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Di Fraia F,
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<span class="bold">PMID: </span><a href="/pubmed/34968628" target="_blank">34968628</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18627709">Leopard syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Porciello R,
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Divona L,
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<span class="bold">PMID: </span><a href="/pubmed/18627709" target="_blank">18627709</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Multiple%20lentigines%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 (33)</a></div></div>
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