Affiliation
Department of Paediatric Cardiology, Our Lady's Children's Hospital, Crumlin,, Dublin. raveenshahdadpuri@yahoo.comIssue Date
2012-02-01T10:24:29ZMeSH
Abnormalities, Multiple/*geneticsAorta/*abnormalities/surgery
Humans
Infant, Newborn
Limb Deformities, Congenital/complications/diagnosis/*genetics
Male
Pulmonary Artery/*abnormalities/surgery
Syndrome
Vascular Malformations/*genetics
Metadata
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Ir Med J. 2009 Feb;102(2):54-6.Journal
Irish medical journalPubMed ID
19405322Abstract
We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child's mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.Language
engISSN
0332-3102 (Print)0332-3102 (Linking)
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