Berry syndrome in association with familial limb malformation.

Hdl Handle:
http://hdl.handle.net/10147/207417
Title:
Berry syndrome in association with familial limb malformation.
Authors:
Shahdadpuri, R; Prendiville, T; Nolke, L; McMahon, C J
Affiliation:
Department of Paediatric Cardiology, Our Lady's Children's Hospital, Crumlin,, Dublin. raveenshahdadpuri@yahoo.com
Citation:
Ir Med J. 2009 Feb;102(2):54-6.
Journal:
Irish medical journal
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207417
PubMed ID:
19405322
Abstract:
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:
eng
MeSH:
Abnormalities, Multiple/*genetics; Aorta/*abnormalities/surgery; Humans; Infant, Newborn; Limb Deformities, Congenital/complications/diagnosis/*genetics; Male; Pulmonary Artery/*abnormalities/surgery; Syndrome; Vascular Malformations/*genetics
ISSN:
0332-3102 (Print); 0332-3102 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorShahdadpuri, Ren_GB
dc.contributor.authorPrendiville, Ten_GB
dc.contributor.authorNolke, Len_GB
dc.contributor.authorMcMahon, C Jen_GB
dc.date.accessioned2012-02-01T10:24:29Z-
dc.date.available2012-02-01T10:24:29Z-
dc.date.issued2012-02-01T10:24:29Z-
dc.identifier.citationIr Med J. 2009 Feb;102(2):54-6.en_GB
dc.identifier.issn0332-3102 (Print)en_GB
dc.identifier.issn0332-3102 (Linking)en_GB
dc.identifier.pmid19405322en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207417-
dc.description.abstractWe 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.en_GB
dc.language.isoengen_GB
dc.subject.meshAbnormalities, Multiple/*geneticsen_GB
dc.subject.meshAorta/*abnormalities/surgeryen_GB
dc.subject.meshHumansen_GB
dc.subject.meshInfant, Newbornen_GB
dc.subject.meshLimb Deformities, Congenital/complications/diagnosis/*geneticsen_GB
dc.subject.meshMaleen_GB
dc.subject.meshPulmonary Artery/*abnormalities/surgeryen_GB
dc.subject.meshSyndromeen_GB
dc.subject.meshVascular Malformations/*geneticsen_GB
dc.titleBerry syndrome in association with familial limb malformation.en_GB
dc.contributor.departmentDepartment of Paediatric Cardiology, Our Lady's Children's Hospital, Crumlin,, Dublin. raveenshahdadpuri@yahoo.comen_GB
dc.identifier.journalIrish medical journalen_GB
dc.description.provinceLeinster-

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