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Burton skeletal dysplasia: the second case report.
- Source :
-
American journal of medical genetics [Am J Med Genet] 1998 Sep 23; Vol. 79 (3), pp. 168-71. - Publication Year :
- 1998
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 0148-7299
- Volume :
- 79
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 9788555
- Full Text :
- https://doi.org/10.1002/(sici)1096-8628(19980923)79:3<168::aid-ajmg3>3.0.co;2-j