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Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. ...Diagnostic clues of …
LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelo …
An update on cardiovascular malformations in congenital rubella syndrome.
Oster ME, Riehle-Colarusso T, Correa A. Oster ME, et al. Birth Defects Res A Clin Mol Teratol. 2010 Jan;88(1):1-8. doi: 10.1002/bdra.20621. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 19697432 Review.
RESULTS: Of the 121 patients in the 10 studies with catheterization data, 78% had branch pulmonary artery stenosis, and 62% had a PDA. In 49% of cases, both branch pulmonary artery stenosis and PDA were present, whereas isolated branch pulmonary
RESULTS: Of the 121 patients in the 10 studies with catheterization data, 78% had branch pulmonary artery stenosis, and 62% ha …
Leopard syndrome.
Tong KL, Ding ZP, Chua T. Tong KL, et al. Singapore Med J. 2001 Jul;42(7):328-31. Singapore Med J. 2001. PMID: 11599630 Review.
The Leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness
The Leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction a …
Coronary artery dilatation in LEOPARD syndrome. A child case and literature review.
Iwasaki Y, Horigome H, Takahashi-Igari M, Kato Y, Razzaque MA, Matsuoka R. Iwasaki Y, et al. Congenit Heart Dis. 2009 Jan-Feb;4(1):38-41. doi: 10.1111/j.1747-0803.2008.00243.x. Congenit Heart Dis. 2009. PMID: 19207402 Review.
We report a 10-year-old male patient who was diagnosed as LS based on typical phenotypes including multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism and deafness. Although the most prevalent cardiovascular abnormalities in LS are pulmonary
We report a 10-year-old male patient who was diagnosed as LS based on typical phenotypes including multiple lentigines, electrocardiographic …
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.
Kalev I, Muru K, Teek R, Zordania R, Reimand T, Köbas K, Ounap K. Kalev I, et al. Eur J Pediatr. 2010 Apr;169(4):469-73. doi: 10.1007/s00431-009-1058-1. Epub 2009 Sep 20. Eur J Pediatr. 2010. PMID: 19768645 Review.
LEOPARD is the acronym for its major features-multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of (male) genitalia, retardation of growth and sensorineural deafness. ...Patient 2 was born fr …
LEOPARD is the acronym for its major features-multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmona
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
Zhang J, Shen J, Cheng R, Ni C, Liang J, Li M, Yao Z. Zhang J, et al. Mol Med Rep. 2016 Sep;14(3):2639-43. doi: 10.3892/mmr.2016.5547. Epub 2016 Jul 27. Mol Med Rep. 2016. PMID: 27484170 Review.
Characteristic features include lentigines, craniofacial dysmorphism, myocardium or valve abnormalities, eletrocardiographic conduction defects and deafness. ...
Characteristic features include lentigines, craniofacial dysmorphism, myocardium or valve abnormalities, eletrocardiographic conducti …