An infant who cannot open her eyes and does not smile: a case report
DOI:
https://doi.org/10.18203/2349-3291.ijcp20242354Keywords:
Noonan syndrome, Genetic, Strabismus, Ptosis, RAS-MAPK, RASopathiesAbstract
Noonan syndrome (NS) is a genetically heterogeneous disorder, with distinctive facial features, short stature, chest deformity, and congenital heart diseases. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway result in Noonan syndrome. It shares clinical features with other RASopathies like Costello syndrome, and cardio-facio-cutaneous syndrome. Ocular findings like hypertelorism, ptosis, refractive errors, strabismus, amblyopia, and external eye abnormalities. It is often difficult to differentiate from other syndromes. Molecular genetic testing can confirm the diagnosis in 70% of cases and plays an important role in genetic counselling and management.
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