Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus
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DOI: 10.1136/bcr-2018-229032
Abstract: A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures. He was incidentally found to have advanced Tanner staging on physical examination. Hormonal testing revealed… read more here.
Keywords: endocrine abnormalities; precocious puberty; case; cardiofaciocutaneous syndrome ... See more keywords
Spontaneous haemopericardium due to vitamin K deficiency in an adult patient with cardiofaciocutaneous syndrome
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DOI: 10.1136/bcr-2022-252047
Abstract: We present the case of an adult man with cardiofaciocutaneous syndrome, who initially presented to the emergency department with severe abdominal pain and distension, but was diagnosed with cardiac tamponade on CT after distended neck… read more here.
Keywords: adult; vitamin deficiency; vitamin; haemopericardium ... See more keywords
Diet-Responsive Hypercholesterolemia With Cardiofaciocutaneous Syndrome Type 3
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DOI: 10.1210/jendso/bvab048.628
Abstract: Abstract Background: Molecular basis of diet responsive hypercholesterolemia remains unclear. We report diet-responsive severe hypercholesterolemia in a young female with cardiofaciocutaneous syndrome type 3 (CFC3) due to a heterozygous pathogenic MAP2K1 variant, suggesting a role… read more here.
Keywords: hypercholesterolemia; syndrome type; ldl; cardiofaciocutaneous syndrome ... See more keywords