Unusual bone dysplasia featuring severe platyspondyly and vertebral "coronal cleft" in infancy, and changes of metaphyseal chondrodysplasia in childhood.
This is the report of a boy who presented at birth with severe generalized platyspondyly, a vertebral "coronal cleft", and an abnormal configuration of the pelvis with short and broad iliac and ischial bones and horizontal acetabular roofs. The rest of the skeleton was normal. In the ensuing years the vertebral bodies and pelvis assumed a near normal configuration, but the patient developed changes of metaphyseal chondrodysplasia in the long bones of the lower limbs with progressive shortness of stature.
D001827:Body Height; D002648:Child; D005269:Femur / Q000002:abnormalities; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000503:physiopathology; D010384:Pelvic Bones / Q000002:abnormalities; D011859:Radiography; D013131:Spine / Q000002:abnormalities; D013977:Tibia / Q000002:abnormalities