Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome.
Previous reports have described the diversity of the phenotypic expression of the Laurence-Moon and Bardet-Biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism, strabismus, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome.
Kobrin
J L
JL
University of Minnesota, Minneapolis.
Ternand
C L
CL
Knobloch
W H
WH
Johnson
D D
DD
D000015:Abnormalities, Multiple; D000293:Adolescent; D000848:Anodontia / Q000235:genetics*; D002648:Child; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007849:Laurence-Moon Syndrome / Q000235:genetics*; D008297:Male; D012174:Retinitis Pigmentosa / Q000235:genetics; D013285:Strabismus / Q000235:genetics