All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Journal of Pediatric Health Care and Medicine

Sign up for email alert when new content gets added: Sign up

Serendipitous Marfan syndrome with unusual presentation in children

Author(s): Sun Mi Her, Da Yee Kang and Lucy Youngmin Eun*

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder resulting from pathologic mutation of the fibrillin-1 gene (FBN1) on chromosome 15. The clinical features are not obvious in children, so diagnosis may be delayed if there is no family history. First case, a 6-year-old boy is referred for abnormal electrocardiography (Borderline prolonged QT) beforehand his tonsillectomy. His arm span–to-height ratio was 0.96 and other clinical features of MFS were not yet apparent. On his echocardiogram, the aortic dilatation (z score>2) was noticed and gene evaluation demonstrated missense variant (c.7606G>A) in 62 exon of FBN1 gene. Second case, a 14-year-old healthy boy visited our hospital with dizziness and pre-syncope. We confirmed his high arm span–to-height ratio (1.01) and myopia. On his echocardiogram, the aortic dilatation (z score>2) was showed and he was diagnosed with MFS through the gene evaluation of missense variant (c.4267G > A) in 2 exon of FBN1 gene.

Full-Text | PDF

+44 7460731551

Recommended Conferences

17th World Congress on Pediatrics and Neonatology

Tokyo, Japan

World Congress on Pediatric Surgery

Tokyo, Japan