New case of Cole-Carpenter syndrome.
Am J Med Genet
; 92(4): 273-7, 2000 Jun 05.
Article
en En
| MEDLINE
| ID: mdl-10842295
ABSTRACT
We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.
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Bases de datos:
MEDLINE
Asunto principal:
Osteogénesis Imperfecta
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Am J Med Genet
Año:
2000
Tipo del documento:
Article
País de afiliación:
Australia