BURTON SKELETAL DYSPLASIA - THE 2ND CASE-REPORT

Authors
LO IFM ROEBUCK DJ LAM STS KOZLOWSKI K
Citation
Ifm. Lo et al., BURTON SKELETAL DYSPLASIA - THE 2ND CASE-REPORT, American journal of medical genetics, 79(3), 1998, pp. 168-171
Citations number
1
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
79
Issue
3
Year of publication
1998
Pages
168 - 171
Database
ISI
SICI code
0148-7299(1998)79:3<168:BSD-T2>2.0.ZU;2-A
Abstract
We describe a a-year-old girl with clinical and radiological findings of Burton skeletal dysplasia, This rare disorder shows some similariti es to Kniest dysplasia, Short stature, joint stiffness, microstomia, a nd pursed lips are characteristic clinical findings. Platyspondyly wit h cervical kyphosis, but no coronal clefts, and bowing of the long bon es are distinctive radiographic findings. (C) 1998 Wiley-Liss, Inc.