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Burton skeletal dysplasia: The second case report

✍ Scribed by Lo, Ivan F.M.; Roebuck, Derek J.; Lam, Stephen T.S.; Kozlowski, Kazimierz

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 17 KB
Volume: 79
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980923)79:3<168::aid-ajmg3>3.0.co;2-j

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✦ Synopsis

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.

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