Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.
Am J Med Genet
; 61(2): 164-7, 1996 Jan 11.
Article
en En
| MEDLINE
| ID: mdl-8669445
ABSTRACT
We present the clinical and radiological findings in a newborn male with severe micromelic dwarfism, short neck, short and narrow upper thorax, and brachydactyly. At the age of 1 year mental development is slightly retarded. The X-ray findings of severe vertebral segmentation defects and a generalized metaphyseal skeletal dysplasia did not lead to a final, conclusive diagnosis. The present patient may be the first example of a new type of micromelic spondylo-epi-metaphyseal dysplasias.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Enanismo
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1996
Tipo del documento:
Article
País de afiliación:
Bélgica