Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 -Related Noonan Syndrome.
Karolina Skrzyńska, Barbara Kalina-Faska, Ewa Błaszczyk et al.
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Case in brief
Two unrelated female pediatric patients were evaluated for LZTR1-related Noonan syndrome. The first patient exhibited isolated short stature and subtle dysmorphic features, with a confirmed heterozygous pathogenic variant in LZTR1. The second patient presented with multisystem involvement, including developmental delay and skeletal abnormalities, carrying a variant of uncertain significance. Notably, neither patient had congenital heart defects.
Diagnostic / clinical pearl
The phenotypic variability of LZTR1-related Noonan syndrome can be significant, with some patients presenting without congenital heart defects, highlighting the need for careful evaluation.
Why it matters
These cases emphasize the importance of genetic testing in diagnosing Noonan syndrome and the necessity of ongoing cardiac surveillance, even in the absence of typical cardiac anomalies.