ArticleEuropean journal of pediatrics2014
Leopard syndrome: a report of five cases from one family in two generations.
Article in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 14 citations in OpenAlex.
- Recombinant human growth hormone in the treatment of C.836A/G-caused short stature in a girl: a case report and literature review.Translational pediatrics · 2022Article
- The First Vietnamese Patient of LEOPARD Syndrome due to aCase reports in genetics · 2021Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThis 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.
conclusionthe clinical diagnosis of LS should be molecularly confirmed in the patient.
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