Familial posterior helical ear pits and Wiedemann-Beckwith syndrome
- 1 August 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 40 (2) , 188-195
- https://doi.org/10.1002/ajmg.1320400213
Abstract
Multiple cases of posterior helical ear pits (PHEP) with apparent autosomal dominant inheritance in a very large family are reported. There are at least 2 cases of Wiedemann-Beckwith syndrome (WBS) within this family. Three other instances of familial PHEP and/or WBS are presented. An individual with a somewhat atypical osteopetrosis and PHEP is described. The previous literature of PHEP and the association with WBS is reviewed.Keywords
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