Berry syndrome in association with familial limb malformation.
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.
Shahdadpuri
R
R
Department of Paediatric Cardiology, Our Lady's Children's Hospital, Crumlin, Dublin. raveenshahdadpuri@yahoo.com
Prendiville
T
T
Nölke
L
L
McMahon
C J
CJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D001011:Aorta / Q000002:abnormalities* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000601:surgery; D013577:Syndrome; D054079:Vascular Malformations / Q000235:genetics*