Holt Oram syndrome: a case report and review of the literature

Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (T...

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Bibliographic Details
Published in:Clinical and experimental obstetrics & gynecology 2016-01, Vol.43 (1), p.137-139
Main Authors: Virdis, G, Dessole, M, Dessole, S, Ambrosini, G, Cosmi, E, Cherchil, P L, Capobianco, G
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Adult
Diagnosis, Differential
Female
Fetal Diseases - diagnostic imaging
Heart Defects, Congenital - diagnostic imaging
Heart Septal Defects, Atrial - diagnostic imaging
Humans
Lower Extremity Deformities, Congenital - diagnostic imaging
Pregnancy
Ultrasonography, Prenatal - methods
Upper Extremity Deformities, Congenital - diagnostic imaging
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Description
Summary:Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. The authors report a case and review the literature.
ISSN:0390-6663
DOI:10.12891/ceog3060.2016