Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.
Am J Med Genet A
; 118A(4): 343-9, 2003 May 01.
Article
en En
| MEDLINE
| ID: mdl-12687665
ABSTRACT
A number of more or less distinct entities with low birth weight and abnormal radiographic appearances have been identified. We studied two sisters who were unusual because of severe intrauterine growth restriction, absence of growth after birth, decrease of pre- and postnatal spontaneous mobility, and early fatal outcome. The chondro-osseous morphology documented a distinctive osteochondrodysplasia. The radiographic examination was superficially similar to gracile bone dysplasias but was inconsistent with any known types of this group. These two patients appear to have a unique gracile bone dysplasia.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Polonia