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Am J Med Genet. 1991 Aug 1;40(2):188-95.

Familial posterior helical ear pits and Wiedemann-Beckwith syndrome.

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1
Indian Health Service Hospital, Rolette, N. Dakota.

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.

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PMID:
1897573
DOI:
10.1002/ajmg.1320400213
[Indexed for MEDLINE]
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