16 September 2026
: Case report 
Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population
Challenging differential diagnosis, Diagnostic / therapeutic accidents, Management of emergency care, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Nur Farhanah
BDEF 1*, Jessica Novia Hadiyanto BEF 2, Sefri Noventi Sofia BD 3, Tania Tedjo Minuljo BD 4, Tri Indah Winarni DF 5
DOI: 10.12659/AJCR.952213
Am J Case Rep 2026; 27:e952213
Figure 2 Karyotype analysis of the current patient showing a normal female karyotype (46, XX). Karyotyping was performed to exclude Turner syndrome, an important differential diagnosis in female patients with suspected Noonan syndrome. As expected for Noonan syndrome, no chromosomal abnormalities were identified. Molecular confirmation using a RASopathy gene panel (eg, PTPN11 and related genes) was not available.