A boy with Poland anomaly and facio-auriculo-vertebral dysplasia.
Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications are discussed.
Cobben
J M
JM
Department of Medical Genetics, University of Groningen, The Netherlands.
van Essen
A J
AJ
McParland
P C
PC
Polman
H A
HA
ten Kate
L P
LP
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D006801:Humans; D008297:Male; D011045:Poland Syndrome / Q000150:complications*