Arthro-osteo-renal dysplasia. Report of a case.
A rare case of bone dysplasia with moderate modelling anomalies of the long bones, joint dislocation, osteolysis, a congenital calvarial defect, a patent ductus arteriosus, a mild degree of hypospadias and hypertensive renal cystic dysplasia is presented. In spite of many similarities with the Hajdu - Cheney Syndrome (HCS), important dissimilarities indicate that this case may be either an extreme variant of HCS, or a closely related, separate entity for which the term Arthro-Osteo-Renal Dysplasia is proposed.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001175:Arthrography; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010014:Osteolysis; D012886:Skull / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome