Published January 2001
| Version v1
Journal article
Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement
Creators
- 1. Hospital Garrahan, Buenos Aires (Argentina). Service of Growth and Development
- 2. Hospital Garrahan, Buenos Aires (Argentina). Service of Genetics
Description
A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age. (orig.)
Additional details
Publishing Information
- Journal Title
- Pediatric Radiology
- Journal Volume
- 31
- Journal Issue
- 1
- Journal Page Range
- p. 19-22
- ISSN
- 0301-0449
- CODEN
- PDRYA5
INIS
- Country of Publication
- Germany
- Country of Input or Organization
- Germany
- INIS RN
- 32014175
- Subject category
- S62: RADIOLOGY AND NUCLEAR MEDICINE;
- Descriptors DEI
- BIOMEDICAL RADIOGRAPHY; CARTILAGE; CHILDREN; CONGENITAL MALFORMATIONS; SKELETON
- Descriptors DEC
- AGE GROUPS; ANIMAL TISSUES; ANIMALS; BODY; CONNECTIVE TISSUE; DIAGNOSTIC TECHNIQUES; MALFORMATIONS; MAMMALS; MAN; MEDICINE; NUCLEAR MEDICINE; ORGANS; PATHOLOGICAL CHANGES; PRIMATES; RADIOLOGY; VERTEBRATES
Optional Information
- Notes
- With 3 figs., 6 refs.