Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement

Citation
V. Fano et al., Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement, PEDIAT RAD, 31(1), 2001, pp. 19-22
Citations number
6
Categorie Soggetti
Radiology ,Nuclear Medicine & Imaging
Journal title
PEDIATRIC RADIOLOGY
ISSN journal
03010449 → ACNP
Volume
31
Issue
1
Year of publication
2001
Pages
19 - 22
Database
ISI
SICI code
0301-0449(200101)31:1<19:SDSLAC>2.0.ZU;2-5
Abstract
A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) i s reported. The disease was detected at birth as a congenital dysplasia wit h generalized lesions. At 10 months of age, abnormal calcifications appeare d in both wrists. The patient evolved with severe growth retardation and mu ltiple neurological and respiratory complications, followed by death at 21 months of age.