https://librepathology.org/w/index.php?action=history&feed=atom&title=LEOPARD_syndrome 2026-05-11T23:03:12Z Revision history for this page on the wiki MediaWiki 1.36.3 https://librepathology.org/w/index.php?title=LEOPARD_syndrome&diff=19903&oldid=prev 2013-01-15T02:35:51Z

<p>create</p> <p><b>New page</b></p><div>'''LEOPARD syndrome''' a rare autosomal dominant disorder with multiple features caused by a specific mutation in the ''PTPN11 gene''.&lt;ref name=pmid19054014&gt;{{Cite journal | last1 = Schrader | first1 = KA. | last2 = Nelson | first2 = TN. | last3 = De Luca | first3 = A. | last4 = Huntsman | first4 = DG. | last5 = McGillivray | first5 = BC. | title = Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. | journal = Clin Genet | volume = 75 | issue = 2 | pages = 185-9 | month = Feb | year = 2009 | doi = 10.1111/j.1399-0004.2008.01100.x | PMID = 19054014 }}&lt;/ref&gt;<br /> <br /> The name of a condition came from a mnemonic that describes the findings:&lt;ref&gt;{{Cite journal | last1 = Martínez-Quintana | first1 = E. | last2 = Rodríguez-González | first2 = F. | title = LEOPARD Syndrome: Clinical Features and Gene Mutations. | journal = Mol Syndromol | volume = 3 | issue = 4 | pages = 145-57 | month = Oct | year = 2012 | doi = 10.1159/000342251 | PMID = 23239957 | PMC = 3507272 }}&lt;/ref&gt;<br /> *Lentigines.<br /> *EKG abnormalities - specifically bundle branch blocks.<br /> *Ocular hypertelorism - wideset eyes.<br /> *Pulmonary stenosis.<br /> *Abnormal genitalia - single gonad, classically cryptorchidism in males.<br /> *Retarded growth.<br /> *Deafness (sensorineural).<br /> <br /> ==See also==<br /> *[[Granular cell tumour]].<br /> <br /> ==References==<br /> {{Reflist|2}}<br /> <br /> [[Category:Syndromes]]</div>

Michael