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Burton skeletal dysplasia: the second case report.

Authors :
Lo IF
Roebuck DJ
Lam ST
Kozlowski K
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