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Poland anomaly—report of an unusual family
Author(s) -
Shalev Stavit A.,
Hall Judith G.
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10145
Subject(s) - anomaly (physics) , thrombophilia , abnormality , coagulation , poland syndrome , medicine , compromise , vascular anomaly , surgery , thrombosis , physics , psychiatry , condensed matter physics , social science , sociology
A family with classical Poland anomaly presenting in the son and a partially affected mother is reported. We hypothesize that Poland anomaly has a multifactorial basis involving vascular compromise in early development. Two possible predisposing factors are aberrant vascular formation and thrombophilia. The investigation of our family has not demonstrated an abnormality in coagulation, therefore, we surmise that an inherited structural variant of blood vessel formation is responsible. © 2003 Wiley‐Liss, Inc.