학술논문
Leopard syndrome: a report of five cases from one family in two generations.
Document Type
Article
Source
Subject
*LEOPARD syndrome
*GENETIC mutation
*PHENOTYPES
*GENE expression
*CLINICAL medicine research
*DIAGNOSIS
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Language
ISSN
0340-6199
Abstract
This is the first reported family with Leopard syndrome (LS) from Bosnia and Herzegovina. We report five cases of LS from two generations of the same family. In the present series of patients from one family, all patients carry the same recurrent mutation Y279C in the PTPN11 gene, exhibiting different phenotypes and a variable expression of multiple lentigines. The diagnosis may be on clinical basis as the diagnostic clues of LS are: multiple lentigines and cafè-au-lait-spots, short stature, distinctive face, congenital heart disease, conduction abnormalities, abnormal genitalia, and sensorineural deafness. Conclusion: the clinical diagnosis of LS should be molecularly confirmed in the patient. [ABSTRACT FROM AUTHOR]