Abstract
LEOPARD syndrome consists of lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness. It is also known as multiple lentigines syndrome.
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References
Abdelmalek NF, Gerber TL, Menter A: Cardiocutaneous syndromes and associations. J Am Acad Dermatol 46:161–183, 2002.
Char F: Leopard syndrome in mother and daughter. Birth Defects Orig Artic Ser 7:234–235, 1971.
Coppin BD, Temple IK: Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 34:582–586, 1997.
Digilio MC, Conti E, Sarkozy A, et al.: Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389–394, 2002.
Dociu I, Galaction-Nitelea O, Sirjita N, et al.: Centrofacial lentiginosis: a survey of 40 cases. Br J Dermatol 94:39–43, 1976.
Fryer PR, Pope FM: Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. Clin Exp Dermatol 17:13–15, 1992.
Gorlin RJ, Anderson RC, Blaw M: Multiple lentigines syndrome. Am J Dis Child 117:652–662, 1969.
Gorlin RJ, Anderson RC, Moller JH: The Leopard (multiple lentigines) syndrome revisited. Birth Defects 7:110–115, 1971.
Jóźwiak S, Schwartz RA, Janniger CL: LEOPARD syndrome (cardiocutaneous Lentiginosis Syndrome). Cutis 57:208–214, 1996.
Jóźwiak S, Schwartz RA, Janniger CK, et al.: Familial occurrence of the LEOPARD syndrome. Int J Dermatol 37:48–51, 1998.
Legius E, Schrander-Stumpel C, Schollen E, et al.: PTPN11 mutations in LEOPARD syndrome. J Med Genet 39:571–574, 2002.
Nordlund JJ, Lerner AB, Braverman IM, et al.: The multiple lentigines syndrome. Arch Dermatol 107:259–261, 1973.
Rotter JI, Rimoin DL: Additional comments on the ulcer-multiple lentigines syndrome. Am J Med Genet 11:251–252, 1982.
Sarkozy A, Conti E, Seripa D, et al.: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40:704–708, 2003.
Seuanez H, Mane-Garzon F, Kolski R: Cardio-cutaneous syndrome (the “LEOPARD” syndrome). Review of the literature and a new family. Clin Genet 9:266–276, 1976.
Voron DA, Hartfield HH, Kalkhoff MD: Multiple lentigines syndrome. Case report and review of the literature. Am J Med 60:447–456, 1976.
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(2006). LEOPARD Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_115
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DOI: https://doi.org/10.1007/978-1-60327-161-5_115
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