The 'small-patella' syndrome. Hereditary osteodysplasia of the knee, pelvis and foot.
We describe a syndrome combining abnormalities of the pelvis, knee and foot in three related patients with a familial history of small dislocated patellae. The clinical and radiological appearance of the patella and pelvis is consistent with the 'small-patella' syndrome, a rare autosomal dominant disorder. There were also previously unreported deformities affecting the feet.
Dellestable
F
F
Centre Hospitalier and Universitaire de Nancy-Brabois, Vandoeuvre-lès-Nancy, France.
Péré
P
P
Blum
A
A
Régent
D
D
Gaucher
A
A
D000328:Adult; D000368:Aged; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D004204:Joint Dislocations / Q000235:genetics; D008875:Middle Aged; D010329:Patella / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010375:Pedigree; D010384:Pelvic Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D012008:Recurrence; D013577:Syndrome