SPONDYLO-META-EPIPHYSEAL DYSPLASIA, SHORT LIMB, ABNORMAL CALCIFICATION TYPE

Authors
ALGAZALI LI BAKALINOVA D SZTRIHA L
Citation
Li. Algazali et al., SPONDYLO-META-EPIPHYSEAL DYSPLASIA, SHORT LIMB, ABNORMAL CALCIFICATION TYPE, Clinical dysmorphology, 5(3), 1996, pp. 197-206
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
5
Issue
3
Year of publication
1996
Pages
197 - 206
Database
ISI
SICI code
0962-8827(1996)5:3<197:SDSLAC>2.0.ZU;2-O
Abstract
We report two sibs with typical clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb abnormal calcification type. In both, the degree of calcification is more extensive than in t he previously reported cases and involved all the epiphyses, ligaments and chondral tissues. Intelligence is normal in both children and the eldest is 8 years old with no complications. The literature is review ed.