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A boy with Poland anomaly and facio‐auriculo‐vertebral dysplasia
Author(s) -
Cobben J. M.,
Essen A. J.,
McParland P. G.,
Polman H. A.,
Kate L. P.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03643.x
Subject(s) - dysplasia , anomaly (physics) , medicine , anatomy , pathology , physics , condensed matter physics
Cobben JM, Van Essen AJ, McParland PC, Polman HA, ten Kate LP. A boy with Poland anomaly and facio‐auriculo‐vertebral dysplasia. Clin Genet 1992: 41: 105–107. 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.