2011, Number 3
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Rev Hosp Jua Mex 2011; 78 (3)
Síndrome de leopard asociado a estenosis pulmonar
Rodríguez CR, López GLM, Valle ML
Language: Spanish
References: 10
Page: 179-181
PDF size: 173.70 Kb.
ABSTRACT
The multiple lentigines leopard syndrome or a disease of high penetrance and gene expression, which involved several 0, and
high clinical expression gets its name from the acronym in English of clinical conditions that represent as:
“Lentigines, ECG
abnormalities, Ocular hypertelorism, Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in
males, Retardation of growth, and Deafness”. Present the case of a 23-year-old carrying multiple lentigines and review of the
literature.
REFERENCES
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Zeisler EP, Becker WS. Generalised lentigo. Arch Dermatol Syph 1936; 32: 109-25.
Sarkozy A, Conti E, Digilio MC, et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet 2004; 41: 680-6.
Sarkozy A, Conti E, Seripa D, et al. Correlation between PTPN11 gene mutations and congenitalheart defects in Noonan and LEOPARD syndrome. J Med Genet 2003; 40: 704-8.
Karen B, Hadchouel A, Saba S, et al. PTPN11 mutation in patients with LEOPARD syndrome: a French multicentric experience. J Med Genet 2004; 41: 117-20.
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Kontoes PP, Vlachos SP, Marayiannis SV. Intense pulsed light for treatmen of lentigines in LEOPARD syndrome. Br Assoc Plast Surg 2003; 56: 607-10.