Article

Differential Diagnosis of RASopathies. Description of a Novel Variant Causing Cardiofaciocutaneous Syndrome

2026-03-12

Abstract excerpt

Cardiofaciocutaneous (CFC) syndrome is a rare RASopathy caused by RAS/MAPK pathway mutations, often overlapping clinically with Noonan and Costello syndromes, making molecular testing crucial for accurate diagnosis. We describe an infant with macrocephaly, hydrocephalus requiring shunt, axial hypotonia, hypertrophic cardiomyopathy, and mitral valve dysplasia. MRI showed ventriculomegaly and cerebellar tonsillar de...

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Literature Corpus work: dd30b9f3-992b-5aba-8b24-e45f8353e5cc
DOI: 10.20944/preprints202603.0969.v1

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