Long-term observation of a patient with dominant omodysplasia.
We report on the natural history of a female with dominant omodysplasia, a rare osteochondrodysplasia with short stature, rhizomelia of the extremities (upper extremities more affected), and short first metacarpals. The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia. The findings in this patient were compared to other known and suspected cases of autosomal dominant omodysplasia. Mild rhizomelic shortening of the lower extremities has not been previously reported.
Greenwood Genetic Center, Greenwood, South Carolina.
Barbara L
BL
Gordon
Neena L
NL
Champaigne
R Curtis
RC
Rogers
Jaime L
JL
Frias
Jules G
JG
Leroy
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D050279:Metacarpal Bones / Q000002:abnormalities*; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D020825:T-Box Domain Proteins / Q000235:genetics
D020825:T-Box Domain Proteins; C416943:TBX22 protein, human
bicornuate uterus; glypican 6; omodysplasia; rhizomelia