Results 11 to 20 of about 3,804 (178)
Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review [PDF]
Clinical Case ReportsLentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis.
Xinxin Lei, Bo Xie
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Dermatology Online Journal, 2015 LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and ...
Ghosh, Sudip Kumar +3 more
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LEOPARD syndrome: You could be the first one to diagnose!
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2015 Leopard syndrome is a rare genetic disease complex associated with multiple anomalies. The main anomalies are summarized in the acronym LEOPARD in which each letter corresponds to mnemonic for the major features of this disorder:multiple Lentigines, ECG ...
Pallavi Urs +3 more
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Biventricular Hypertrophic Cardiomyopathy in a Child with LEOPARD Syndrome: a Case Report
Journal of Interdisciplinary Medicine, 2017 Background: LEOPARD syndrome is a complex dysmorphogenetic disorder of inconstant penetrance and various morphologic expressions. The syndrome is an autosomal dominant disease that features multiple lentigines, electrocardiographic changes, eye ...
Blesneac Cristina +5 more
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Melanoma and LEOPARD Syndrome: Understanding the Role of PTPN11 Mutations in Melanomagenesis [PDF]
Acta Dermato-Venereologicais missing (Short communication)
Rodolfo David Palacios-Diaz +4 more
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LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report
The Turkish Journal of Pediatrics, 2004 The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities ...
Ergun Cetinkaya +6 more
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When RASopathies Collide: A Case Highlighting the Continuum between Noonan and LEOPARD Syndromes
International Journal of Medical StudentsLEOPARD syndrome and Noonan syndrome are clinically overlapping RASopathies, both frequently associated with pathogenic variants in the PTPN11 gene, which encodes the SHP-2 tyrosine phosphatase.
Umesh G +4 more
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Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on LEOPARD syndrome, with data on clinics, and the genes ...
Digilio, MC
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LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
Annals of Pediatric Cardiology, 2011 In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM).
Ganigara Madhusudan +2 more
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Muerte súbita en paciente con síndrome LEOPARD / Sudden death in patients with LEOPARD syndrome
CorSalud, 2015 LEOPARD or Moynahan syndrome, also called multiple lentigines, is a rare genetic disease which causes multiple visceral abnormalities, including heart abnormalities, and may trigger sudden death.
Eliany Rodríguez Moreno +6 more
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