Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature

Vol. 62 No. 2, 2021

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Maria Claudia Jurca, Oana Alexandra Iuhas, Maria Puiu, Adela Chirita-Emandi, Nicoleta Ioana Andreescu, Codruta Diana Petchesi, Alexandru Daniel Jurca, Ioan Magyar, Sanziana Iulia Jurca, Kinga Kozma, Emilia Maria Severin, Marius Bembea

Cardiofaciocutaneous (CFC) syndrome [Online Mendelian Inheritance in Man (OMIM) 115150] is characterized by craniofacial dysmorphism, heart malformation, ectodermal abnormalities, neuromotor delay and intellectual disability. It is not a frequent disease, about 300 cases have been reported in the medical literature. We describe the case of a 34-year-old patient presenting with CFC syndrome phenotype, monitored since the age of 1 1/2 years. Clinical findings included craniofacial dysmorphism, development delay, heart malformation and severe intellectual disability. The evolution was with progressive intellectual disability, hypogonadism, hypertrophic cardiomyopathy, wrinkled palms and soles. Molecular analysis showed a heterozygous variant in the B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene (7q34): NM_001354609.2:c.1502A>G, with pathogenic significance. We report this case, observed along a period of 33 years, for illustration of clinical evolutive particularities, and for difficulties in establishing the positive diagnosis.

Corresponding author: Alexandru Daniel Jurca, Lecturer, MD, PhD; e-mail: alexjurca@yahoo.co.uk; Codruta Diana Petchesi, Assistant Professor, MD, PhD Student; e-mail: petchesi_diana@yahoo.com

DOI: 10.47162/RJME.62.2.23 Download PDF
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