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A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum


  • Conflict of interest: none.

Correspondence to:

Karen Low, MBChB B.Sc., Clinical Genetics, University Hospitals Bristol, Level B, St. Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK.



A mother and daughter with an overlapping Catel–Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis. © 2013 Wiley Periodicals, Inc.