New case of Cole-Carpenter syndrome

Autor:	D J, Amor, R, Savarirayan, A S, Schneider, A, Bankier
Rok vydání:	2000
Předmět:	Craniofacial Abnormalities Radiography Craniosynostoses Infant Newborn Humans Infant Female Eye Abnormalities Syndrome Osteogenesis Imperfecta Growth Disorders
Zdroj:	American journal of medical genetics. 92(4)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::4ec8f5f72be209a5abde5bed755c333d https://pubmed.ncbi.nlm.nih.gov/10842295 Zobrazit plný text záznamu Plný text