Abstract
A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operation for this disease. The preterm baby was finally diagnosed with Myhre Syndrome by clinical phenotypes and mutation of SMAD4 gene.
Highlights
A 32-month-old girl was hospitalized because her growth and development were two years behind compared to same-age children
SMAD4 can achieve signal transduction by assisting the phosphorylation and oligomerization of TGF-β and bone morphogenetic protein (BMP) pathways, and its gene mutation affects the function of multiple organ systems
The mutation of SMAD4 gene can cause four different diseases, i.e., juvenile polyposis syndrome, hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome, and pancreatic cancers, reflecting different clinical phenotypes caused by the same gene variation[1]
Summary
A 32-month-old girl was hospitalized because her growth and development were two years behind compared to same-age children. Physical examination of the child showed that the clinical phenotype was not consistent with the first genetic diagnosis of Marfan syndrome. The clinical phenotypes of the patient in 2018 were patent ductus arteriosus, chronic cardiac insufficiency, severe malnutrition, and stunting.
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