Case Reports
doi: 10.1002/1096-8628(20001127)95:3<201::aid-ajmg3>3.0.co;2-w.
Char syndrome: an additional family with polythelia, a new finding
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- PMID: 11102923
- DOI: 10.1002/1096-8628(20001127)95:3<201::aid-ajmg3>3.0.co;2-w
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Case Reports
Char syndrome: an additional family with polythelia, a new finding
Am J Med Genet.
.
Abstract
This report describes a father and daughter with Char syndrome, a rare autosomal dominant disorder. Both affected individuals had typical face, strabismus, and foot anomalies. The girl also had a patent ductus arteriosus. In addition, both patients had polythelia (supernumerary nipples), a finding not described before in the Char syndrome.
Copyright 2000 Wiley-Liss, Inc.
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