Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations.
We report a new case of Ohdo syndrome with bilateral patella dislocations where surgical intervention has been indicated. A review of the skeletal manifestations reported in the literature on Ohdo syndrome reveals that joint laxity and skeletal deformities are important aspects of the phenotype.
Day
Ruth
R
Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital, Eaton Road, Liverpool L12 2AP, UK.
Fryer
Alan
A
D000015:Abnormalities, Multiple; D016569:Blepharophimosis / Q000175:diagnosis; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D005145:Face; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D007593:Joint Instability; D007717:Knee / Q000002:abnormalities; D008297:Male; D010329:Patella / Q000002:abnormalities* / Q000473:pathology*; D010641:Phenotype; D013577:Syndrome