Familial posterior helical ear pits and Wiedemann-Beckwith syndrome.

Description: 

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.

People: 
American Indian
Location Description: 

North Dakota ND

Protocol: 
IHS Headquarters Offices Public Access
Community: 
IHS Headquarters Offices
Category: 
Miscellaneous
Original Date: 
1991
Creator: 
Best LG.
Rights: 
Records indicate that the UNM Health Sciences Library owns a copy of this item, but there may be a need to clear rights with a copyright holder prior to sharing with the public.
Source: 
American Journal of Medical Genetics 40(2):188-95.
External Links: 
Publisher: 
Indian Health Service, PHS Hospital, Rolette, ND.
Identifier: 
9700988
Subject: 
Beckwith-Wiedemann Syndrome/Radiography, Beckwith-Wiedemann Syndrome/Genetics, Case Report, Child, Child, Preschool, Ear, External/Abnormalities, Female, Genes, Dominant/Genetics, Infant, Male, Osteopetrosis/Genetics, Pedigree
Type: 
Journal Article