Burton skeletal dysplasia: the second case report.
We describe a 2-year-old girl with clinical and radiological findings of Burton skeletal dysplasia. This rare disorder shows some similarities to Kniest dysplasia. Short stature, joint stiffness, microstomia, and pursed lips are characteristic clinical findings. Platyspondyly with cervical kyphosis, but no coronal clefts, and bowing of the long bones are distinctive radiographic findings.
Lo
I F
IF
Clinical Genetic Service, Department of Health, Kowloon, Hong Kong. skyblue@netvigator.com
Roebuck
D J
DJ
Lam
S T
ST
Kozlowski
K
K
D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007596:Joints / Q000002:abnormalities / Q000473:pathology; D008046:Lip / Q000002:abnormalities / Q000473:pathology; D011859:Radiography