Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?
Three individuals from two families with bilateral camptodactyly and recurrent patellar subluxation are presented. All three have features of Di George syndrome owing to a 22q11 deletion. Hand abnormalities are infrequently seen in 22q11 deletions. Only one previous report exists of camptodactyly with patellar subluxation.
O'Driscoll
Mary C
MC
Academic Department of Medical Genetics, St Mary's Hospital, Oxford Road, Manchester, UK.
Clayton-Smith
Jill
J
D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D017353:Gene Deletion; D005799:Genes, Dominant; D006801:Humans; D031221:Knee Dislocation / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010329:Patella; D012008:Recurrence