Familial posterior helical ear pits and Wiedemann-Beckwith syndrome.
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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Indian Health Service Hospital, Rolette, N. Dakota.
D001506:Beckwith-Wiedemann Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010022:Osteopetrosis / Q000235:genetics; D010375:Pedigree; D011859:Radiography